rs1801133 - SNP

Select item 18011331.

rs1801133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:11796321 (GRCh38)
1:11856378 (GRCh37)
Canonical SPDI:: NC_000001.11:11796320:G:A,NC_000001.11:11796320:G:C
Gene:: MTHFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign,uncertain-significance,other,drug-response,conflicting-interpretations-of-pathogenicity,likely-benign,not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.340158/126753 (ALFA)
A=0.138889/30 (Qatari)
A=0.15/6 (GENOME_DK)
A=0.155229/95 (Vietnamese)
A=0.238372/451 (HapMap)
A=0.240132/73 (FINRISK)
A=0.246252/1233 (1000Genomes)
A=0.260798/20518 (PAGE_STUDY)
A=0.270567/3519 (GoESP)
A=0.274455/38432 (GnomAD)
A=0.28167/587 (HGDP_Stanford)
A=0.291243/77089 (TOPMED)
A=0.29308/1313 (Estonian)
A=0.301498/161 (MGP)
A=0.303667/36864 (ExAC)
A=0.314235/1064 (PharmGKB)
A=0.314859/79177 (GnomAD_exomes)
A=0.319639/319 (GoNL)
A=0.330097/1224 (TWINSUK)
A=0.334198/1288 (ALSPAC)
A=0.336667/202 (NorthernSweden)
G=0.388889/7 (Siberian)
A=0.391889/6568 (TOMMO)
G=0.402655/91 (SGDP_PRJ)
A=0.440614/1291 (KOREAN)
G=0.446381/333 (PRJEB37584)
A=0.473684/36 (PRJEB36033)
HGVS:: NC_000001.11:g.11796321G>A, NC_000001.11:g.11796321G>C, NC_000001.10:g.11856378G>A, NC_000001.10:g.11856378G>C, NG_013351.1:g.14783C>T, NG_013351.1:g.14783C>G, NM_005957.5:c.665C>T, NM_005957.5:c.665C>G, NM_005957.4:c.665C>T, NM_005957.4:c.665C>G, NM_001330358.2:c.788C>T, NM_001330358.2:c.788C>G, NM_001330358.1:c.788C>T, NM_001330358.1:c.788C>G, NM_001410750.1:c.785C>T, NM_001410750.1:c.785C>G, XM_005263462.5:c.665C>T, XM_005263462.5:c.665C>G, XM_005263462.4:c.665C>T, XM_005263462.4:c.665C>G, XM_005263462.3:c.665C>T, XM_005263462.3:c.665C>G, XM_005263462.2:c.665C>T, XM_005263462.2:c.665C>G, XM_005263462.1:c.665C>T, XM_005263462.1:c.665C>G, XM_005263463.5:c.419C>T, XM_005263463.5:c.419C>G, XM_005263463.4:c.419C>T, XM_005263463.4:c.419C>G, XM_005263463.3:c.419C>T, XM_005263463.3:c.419C>G, XM_005263463.2:c.419C>T, XM_005263463.2:c.419C>G, XM_005263463.1:c.419C>T, XM_005263463.1:c.419C>G, XM_011541495.4:c.785C>T, XM_011541495.4:c.785C>G, XM_011541496.4:c.788C>T, XM_011541496.4:c.788C>G, XM_011541496.3:c.788C>T, XM_011541496.3:c.788C>G, XM_011541496.2:c.788C>T, XM_011541496.2:c.788C>G, XM_011541496.1:c.788C>T, XM_011541496.1:c.788C>G, XM_017001328.3:c.788C>T, XM_017001328.3:c.788C>G, XM_017001328.2:c.788C>T, XM_017001328.2:c.788C>G, XM_017001328.1:c.788C>T, XM_017001328.1:c.788C>G, XM_047421178.1:c.665C>T, XM_047421178.1:c.665C>G, XM_047421174.1:c.785C>T, XM_047421174.1:c.785C>G, XM_047421180.1:c.665C>T, XM_047421180.1:c.665C>G, XM_047421181.1:c.665C>T, XM_047421181.1:c.665C>G, XM_047421179.1:c.665C>T, XM_047421179.1:c.665C>G, NP_005948.3:p.Ala222Val, NP_005948.3:p.Ala222Gly, NP_001317287.1:p.Ala263Val, NP_001317287.1:p.Ala263Gly, XP_005263519.1:p.Ala222Val, XP_005263519.1:p.Ala222Gly, XP_005263520.1:p.Ala140Val, XP_005263520.1:p.Ala140Gly, XP_011539797.1:p.Ala262Val, XP_011539797.1:p.Ala262Gly, XP_011539798.1:p.Ala263Val, XP_011539798.1:p.Ala263Gly, XP_016856817.1:p.Ala263Val, XP_016856817.1:p.Ala263Gly, XP_047277134.1:p.Ala222Val, XP_047277134.1:p.Ala222Gly, XP_047277130.1:p.Ala262Val, XP_047277130.1:p.Ala262Gly, XP_047277136.1:p.Ala222Val, XP_047277136.1:p.Ala222Gly, XP_047277137.1:p.Ala222Val, XP_047277137.1:p.Ala222Gly, XP_047277135.1:p.Ala222Val, XP_047277135.1:p.Ala222Gly

PubMed LitVar

Select item 3865456182.

rs386545618 has merged into rs1801133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:11796321 (GRCh38)
1:11856378 (GRCh37)
Canonical SPDI:: NC_000001.11:11796320:G:A,NC_000001.11:11796320:G:C
Gene:: MTHFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign,uncertain-significance,other,drug-response,conflicting-interpretations-of-pathogenicity,likely-benign,not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.340158/126753 (ALFA)
A=0.138889/30 (Qatari)
A=0.15/6 (GENOME_DK)
A=0.155229/95 (Vietnamese)
A=0.238372/451 (HapMap)
A=0.240132/73 (FINRISK)
A=0.246252/1233 (1000Genomes)
A=0.260798/20518 (PAGE_STUDY)
A=0.270567/3519 (GoESP)
A=0.274455/38432 (GnomAD)
A=0.28167/587 (HGDP_Stanford)
A=0.291243/77089 (TOPMED)
A=0.29308/1313 (Estonian)
A=0.301498/161 (MGP)
A=0.303667/36864 (ExAC)
A=0.314235/1064 (PharmGKB)
A=0.314859/79177 (GnomAD_exomes)
A=0.319639/319 (GoNL)
A=0.330097/1224 (TWINSUK)
A=0.334198/1288 (ALSPAC)
A=0.336667/202 (NorthernSweden)
G=0.388889/7 (Siberian)
A=0.391889/6568 (TOMMO)
G=0.402655/91 (SGDP_PRJ)
A=0.440614/1291 (KOREAN)
G=0.446381/333 (PRJEB37584)
A=0.473684/36 (PRJEB36033)
HGVS:: NC_000001.11:g.11796321G>A, NC_000001.11:g.11796321G>C, NC_000001.10:g.11856378G>A, NC_000001.10:g.11856378G>C, NG_013351.1:g.14783C>T, NG_013351.1:g.14783C>G, NM_005957.5:c.665C>T, NM_005957.5:c.665C>G, NM_005957.4:c.665C>T, NM_005957.4:c.665C>G, NM_001330358.2:c.788C>T, NM_001330358.2:c.788C>G, NM_001330358.1:c.788C>T, NM_001330358.1:c.788C>G, NM_001410750.1:c.785C>T, NM_001410750.1:c.785C>G, XM_005263462.5:c.665C>T, XM_005263462.5:c.665C>G, XM_005263462.4:c.665C>T, XM_005263462.4:c.665C>G, XM_005263462.3:c.665C>T, XM_005263462.3:c.665C>G, XM_005263462.2:c.665C>T, XM_005263462.2:c.665C>G, XM_005263462.1:c.665C>T, XM_005263462.1:c.665C>G, XM_005263463.5:c.419C>T, XM_005263463.5:c.419C>G, XM_005263463.4:c.419C>T, XM_005263463.4:c.419C>G, XM_005263463.3:c.419C>T, XM_005263463.3:c.419C>G, XM_005263463.2:c.419C>T, XM_005263463.2:c.419C>G, XM_005263463.1:c.419C>T, XM_005263463.1:c.419C>G, XM_011541495.4:c.785C>T, XM_011541495.4:c.785C>G, XM_011541496.4:c.788C>T, XM_011541496.4:c.788C>G, XM_011541496.3:c.788C>T, XM_011541496.3:c.788C>G, XM_011541496.2:c.788C>T, XM_011541496.2:c.788C>G, XM_011541496.1:c.788C>T, XM_011541496.1:c.788C>G, XM_017001328.3:c.788C>T, XM_017001328.3:c.788C>G, XM_017001328.2:c.788C>T, XM_017001328.2:c.788C>G, XM_017001328.1:c.788C>T, XM_017001328.1:c.788C>G, XM_047421178.1:c.665C>T, XM_047421178.1:c.665C>G, XM_047421174.1:c.785C>T, XM_047421174.1:c.785C>G, XM_047421180.1:c.665C>T, XM_047421180.1:c.665C>G, XM_047421181.1:c.665C>T, XM_047421181.1:c.665C>G, XM_047421179.1:c.665C>T, XM_047421179.1:c.665C>G, NP_005948.3:p.Ala222Val, NP_005948.3:p.Ala222Gly, NP_001317287.1:p.Ala263Val, NP_001317287.1:p.Ala263Gly, XP_005263519.1:p.Ala222Val, XP_005263519.1:p.Ala222Gly, XP_005263520.1:p.Ala140Val, XP_005263520.1:p.Ala140Gly, XP_011539797.1:p.Ala262Val, XP_011539797.1:p.Ala262Gly, XP_011539798.1:p.Ala263Val, XP_011539798.1:p.Ala263Gly, XP_016856817.1:p.Ala263Val, XP_016856817.1:p.Ala263Gly, XP_047277134.1:p.Ala222Val, XP_047277134.1:p.Ala222Gly, XP_047277130.1:p.Ala262Val, XP_047277130.1:p.Ala262Gly, XP_047277136.1:p.Ala222Val, XP_047277136.1:p.Ala222Gly, XP_047277137.1:p.Ala222Val, XP_047277137.1:p.Ala222Gly, XP_047277135.1:p.Ala222Val, XP_047277135.1:p.Ala222Gly

Select item 595143103.

rs59514310 has merged into rs1801133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:11796321 (GRCh38)
1:11856378 (GRCh37)
Canonical SPDI:: NC_000001.11:11796320:G:A,NC_000001.11:11796320:G:C
Gene:: MTHFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign,uncertain-significance,other,drug-response,conflicting-interpretations-of-pathogenicity,likely-benign,not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.340158/126753 (ALFA)
A=0.138889/30 (Qatari)
A=0.15/6 (GENOME_DK)
A=0.155229/95 (Vietnamese)
A=0.238372/451 (HapMap)
A=0.240132/73 (FINRISK)
A=0.246252/1233 (1000Genomes)
A=0.260798/20518 (PAGE_STUDY)
A=0.270567/3519 (GoESP)
A=0.274455/38432 (GnomAD)
A=0.28167/587 (HGDP_Stanford)
A=0.291243/77089 (TOPMED)
A=0.29308/1313 (Estonian)
A=0.301498/161 (MGP)
A=0.303667/36864 (ExAC)
A=0.314235/1064 (PharmGKB)
A=0.314859/79177 (GnomAD_exomes)
A=0.319639/319 (GoNL)
A=0.330097/1224 (TWINSUK)
A=0.334198/1288 (ALSPAC)
A=0.336667/202 (NorthernSweden)
G=0.388889/7 (Siberian)
A=0.391889/6568 (TOMMO)
G=0.402655/91 (SGDP_PRJ)
A=0.440614/1291 (KOREAN)
G=0.446381/333 (PRJEB37584)
A=0.473684/36 (PRJEB36033)
HGVS:: NC_000001.11:g.11796321G>A, NC_000001.11:g.11796321G>C, NC_000001.10:g.11856378G>A, NC_000001.10:g.11856378G>C, NG_013351.1:g.14783C>T, NG_013351.1:g.14783C>G, NM_005957.5:c.665C>T, NM_005957.5:c.665C>G, NM_005957.4:c.665C>T, NM_005957.4:c.665C>G, NM_001330358.2:c.788C>T, NM_001330358.2:c.788C>G, NM_001330358.1:c.788C>T, NM_001330358.1:c.788C>G, NM_001410750.1:c.785C>T, NM_001410750.1:c.785C>G, XM_005263462.5:c.665C>T, XM_005263462.5:c.665C>G, XM_005263462.4:c.665C>T, XM_005263462.4:c.665C>G, XM_005263462.3:c.665C>T, XM_005263462.3:c.665C>G, XM_005263462.2:c.665C>T, XM_005263462.2:c.665C>G, XM_005263462.1:c.665C>T, XM_005263462.1:c.665C>G, XM_005263463.5:c.419C>T, XM_005263463.5:c.419C>G, XM_005263463.4:c.419C>T, XM_005263463.4:c.419C>G, XM_005263463.3:c.419C>T, XM_005263463.3:c.419C>G, XM_005263463.2:c.419C>T, XM_005263463.2:c.419C>G, XM_005263463.1:c.419C>T, XM_005263463.1:c.419C>G, XM_011541495.4:c.785C>T, XM_011541495.4:c.785C>G, XM_011541496.4:c.788C>T, XM_011541496.4:c.788C>G, XM_011541496.3:c.788C>T, XM_011541496.3:c.788C>G, XM_011541496.2:c.788C>T, XM_011541496.2:c.788C>G, XM_011541496.1:c.788C>T, XM_011541496.1:c.788C>G, XM_017001328.3:c.788C>T, XM_017001328.3:c.788C>G, XM_017001328.2:c.788C>T, XM_017001328.2:c.788C>G, XM_017001328.1:c.788C>T, XM_017001328.1:c.788C>G, XM_047421178.1:c.665C>T, XM_047421178.1:c.665C>G, XM_047421174.1:c.785C>T, XM_047421174.1:c.785C>G, XM_047421180.1:c.665C>T, XM_047421180.1:c.665C>G, XM_047421181.1:c.665C>T, XM_047421181.1:c.665C>G, XM_047421179.1:c.665C>T, XM_047421179.1:c.665C>G, NP_005948.3:p.Ala222Val, NP_005948.3:p.Ala222Gly, NP_001317287.1:p.Ala263Val, NP_001317287.1:p.Ala263Gly, XP_005263519.1:p.Ala222Val, XP_005263519.1:p.Ala222Gly, XP_005263520.1:p.Ala140Val, XP_005263520.1:p.Ala140Gly, XP_011539797.1:p.Ala262Val, XP_011539797.1:p.Ala262Gly, XP_011539798.1:p.Ala263Val, XP_011539798.1:p.Ala263Gly, XP_016856817.1:p.Ala263Val, XP_016856817.1:p.Ala263Gly, XP_047277134.1:p.Ala222Val, XP_047277134.1:p.Ala222Gly, XP_047277130.1:p.Ala262Val, XP_047277130.1:p.Ala262Gly, XP_047277136.1:p.Ala222Val, XP_047277136.1:p.Ala222Gly, XP_047277137.1:p.Ala222Val, XP_047277137.1:p.Ala222Gly, XP_047277135.1:p.Ala222Val, XP_047277135.1:p.Ala222Gly

Select item 41347134.

rs4134713 has merged into rs1801133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:11796321 (GRCh38)
1:11856378 (GRCh37)
Canonical SPDI:: NC_000001.11:11796320:G:A,NC_000001.11:11796320:G:C
Gene:: MTHFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign,uncertain-significance,other,drug-response,conflicting-interpretations-of-pathogenicity,likely-benign,not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.340158/126753 (ALFA)
A=0.138889/30 (Qatari)
A=0.15/6 (GENOME_DK)
A=0.155229/95 (Vietnamese)
A=0.238372/451 (HapMap)
A=0.240132/73 (FINRISK)
A=0.246252/1233 (1000Genomes)
A=0.260798/20518 (PAGE_STUDY)
A=0.270567/3519 (GoESP)
A=0.274455/38432 (GnomAD)
A=0.28167/587 (HGDP_Stanford)
A=0.291243/77089 (TOPMED)
A=0.29308/1313 (Estonian)
A=0.301498/161 (MGP)
A=0.303667/36864 (ExAC)
A=0.314235/1064 (PharmGKB)
A=0.314859/79177 (GnomAD_exomes)
A=0.319639/319 (GoNL)
A=0.330097/1224 (TWINSUK)
A=0.334198/1288 (ALSPAC)
A=0.336667/202 (NorthernSweden)
G=0.388889/7 (Siberian)
A=0.391889/6568 (TOMMO)
G=0.402655/91 (SGDP_PRJ)
A=0.440614/1291 (KOREAN)
G=0.446381/333 (PRJEB37584)
A=0.473684/36 (PRJEB36033)
HGVS:: NC_000001.11:g.11796321G>A, NC_000001.11:g.11796321G>C, NC_000001.10:g.11856378G>A, NC_000001.10:g.11856378G>C, NG_013351.1:g.14783C>T, NG_013351.1:g.14783C>G, NM_005957.5:c.665C>T, NM_005957.5:c.665C>G, NM_005957.4:c.665C>T, NM_005957.4:c.665C>G, NM_001330358.2:c.788C>T, NM_001330358.2:c.788C>G, NM_001330358.1:c.788C>T, NM_001330358.1:c.788C>G, NM_001410750.1:c.785C>T, NM_001410750.1:c.785C>G, XM_005263462.5:c.665C>T, XM_005263462.5:c.665C>G, XM_005263462.4:c.665C>T, XM_005263462.4:c.665C>G, XM_005263462.3:c.665C>T, XM_005263462.3:c.665C>G, XM_005263462.2:c.665C>T, XM_005263462.2:c.665C>G, XM_005263462.1:c.665C>T, XM_005263462.1:c.665C>G, XM_005263463.5:c.419C>T, XM_005263463.5:c.419C>G, XM_005263463.4:c.419C>T, XM_005263463.4:c.419C>G, XM_005263463.3:c.419C>T, XM_005263463.3:c.419C>G, XM_005263463.2:c.419C>T, XM_005263463.2:c.419C>G, XM_005263463.1:c.419C>T, XM_005263463.1:c.419C>G, XM_011541495.4:c.785C>T, XM_011541495.4:c.785C>G, XM_011541496.4:c.788C>T, XM_011541496.4:c.788C>G, XM_011541496.3:c.788C>T, XM_011541496.3:c.788C>G, XM_011541496.2:c.788C>T, XM_011541496.2:c.788C>G, XM_011541496.1:c.788C>T, XM_011541496.1:c.788C>G, XM_017001328.3:c.788C>T, XM_017001328.3:c.788C>G, XM_017001328.2:c.788C>T, XM_017001328.2:c.788C>G, XM_017001328.1:c.788C>T, XM_017001328.1:c.788C>G, XM_047421178.1:c.665C>T, XM_047421178.1:c.665C>G, XM_047421174.1:c.785C>T, XM_047421174.1:c.785C>G, XM_047421180.1:c.665C>T, XM_047421180.1:c.665C>G, XM_047421181.1:c.665C>T, XM_047421181.1:c.665C>G, XM_047421179.1:c.665C>T, XM_047421179.1:c.665C>G, NP_005948.3:p.Ala222Val, NP_005948.3:p.Ala222Gly, NP_001317287.1:p.Ala263Val, NP_001317287.1:p.Ala263Gly, XP_005263519.1:p.Ala222Val, XP_005263519.1:p.Ala222Gly, XP_005263520.1:p.Ala140Val, XP_005263520.1:p.Ala140Gly, XP_011539797.1:p.Ala262Val, XP_011539797.1:p.Ala262Gly, XP_011539798.1:p.Ala263Val, XP_011539798.1:p.Ala263Gly, XP_016856817.1:p.Ala263Val, XP_016856817.1:p.Ala263Gly, XP_047277134.1:p.Ala222Val, XP_047277134.1:p.Ala222Gly, XP_047277130.1:p.Ala262Val, XP_047277130.1:p.Ala262Gly, XP_047277136.1:p.Ala222Val, XP_047277136.1:p.Ala222Gly, XP_047277137.1:p.Ala222Val, XP_047277137.1:p.Ala222Gly, XP_047277135.1:p.Ala222Val, XP_047277135.1:p.Ala222Gly

dbSNP

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