rs2070739 - SNP

Select item 20707391.

rs2070739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47974193 (GRCh38)
12:48367976 (GRCh37)
Canonical SPDI:: NC_000012.12:47974192:C:T
Gene:: COL2A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.10971/39409 (ALFA)
T=0.046296/10 (Qatari)
T=0.04878/4 (PRJEB36033)
T=0.069814/908 (GoESP)
T=0.075/3 (GENOME_DK)
T=0.097321/436 (Estonian)
T=0.098963/13874 (GnomAD)
T=0.099245/368 (TWINSUK)
T=0.101194/390 (ALSPAC)
T=0.102204/102 (GoNL)
T=0.102996/55 (MGP)
T=0.113487/30039 (TOPMED)
T=0.12/72 (NorthernSweden)
T=0.149974/18199 (ExAC)
T=0.154605/47 (FINRISK)
T=0.164136/41274 (GnomAD_exomes)
T=0.167864/841 (1000Genomes)
T=0.168374/13250 (PAGE_STUDY)
T=0.175592/282 (HapMap)
T=0.209693/437 (HGDP_Stanford)
T=0.377525/299 (PRJEB37584)
C=0.4/80 (SGDP_PRJ)
T=0.413681/254 (Vietnamese)
T=0.459386/1346 (KOREAN)
T=0.467795/857 (Korea1K)
T=0.479296/8032 (TOMMO)
C=0.5/7 (Siberian)
HGVS:: NC_000012.12:g.47974193C>T, NC_000012.11:g.48367976C>T, NG_008072.1:g.35310G>A, NM_001844.5:c.4213G>A, NM_001844.4:c.4213G>A, NM_033150.3:c.4006G>A, NM_033150.2:c.4006G>A, XM_017018831.3:c.3667G>A, XM_017018831.2:c.3667G>A, XM_017018831.1:c.3667G>A, XM_017018828.1:c.4357G>A, XM_017018829.1:c.4354G>A, XM_017018830.1:c.4147G>A, XM_047428315.1:c.3667G>A, NP_001835.3:p.Gly1405Ser, NP_149162.2:p.Gly1336Ser, XP_016874320.1:p.Gly1223Ser, XP_016874317.1:p.Gly1453Ser, XP_016874318.1:p.Gly1452Ser, XP_016874319.1:p.Gly1383Ser, XP_047284271.1:p.Gly1223Ser

PubMed

Select item 571347442.

rs57134744 has merged into rs2070739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47974193 (GRCh38)
12:48367976 (GRCh37)
Canonical SPDI:: NC_000012.12:47974192:C:T
Gene:: COL2A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.10971/39409 (ALFA)
T=0.046296/10 (Qatari)
T=0.04878/4 (PRJEB36033)
T=0.069814/908 (GoESP)
T=0.075/3 (GENOME_DK)
T=0.097321/436 (Estonian)
T=0.098963/13874 (GnomAD)
T=0.099245/368 (TWINSUK)
T=0.101194/390 (ALSPAC)
T=0.102204/102 (GoNL)
T=0.102996/55 (MGP)
T=0.113487/30039 (TOPMED)
T=0.12/72 (NorthernSweden)
T=0.149974/18199 (ExAC)
T=0.154605/47 (FINRISK)
T=0.164136/41274 (GnomAD_exomes)
T=0.167864/841 (1000Genomes)
T=0.168374/13250 (PAGE_STUDY)
T=0.175592/282 (HapMap)
T=0.209693/437 (HGDP_Stanford)
T=0.377525/299 (PRJEB37584)
C=0.4/80 (SGDP_PRJ)
T=0.413681/254 (Vietnamese)
T=0.459386/1346 (KOREAN)
T=0.467795/857 (Korea1K)
T=0.479296/8032 (TOMMO)
C=0.5/7 (Siberian)
HGVS:: NC_000012.12:g.47974193C>T, NC_000012.11:g.48367976C>T, NG_008072.1:g.35310G>A, NM_001844.5:c.4213G>A, NM_001844.4:c.4213G>A, NM_033150.3:c.4006G>A, NM_033150.2:c.4006G>A, XM_017018831.3:c.3667G>A, XM_017018831.2:c.3667G>A, XM_017018831.1:c.3667G>A, XM_017018828.1:c.4357G>A, XM_017018829.1:c.4354G>A, XM_017018830.1:c.4147G>A, XM_047428315.1:c.3667G>A, NP_001835.3:p.Gly1405Ser, NP_149162.2:p.Gly1336Ser, XP_016874320.1:p.Gly1223Ser, XP_016874317.1:p.Gly1453Ser, XP_016874318.1:p.Gly1452Ser, XP_016874319.1:p.Gly1383Ser, XP_047284271.1:p.Gly1223Ser

Select item 22298083.

rs2229808 has merged into rs2070739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47974193 (GRCh38)
12:48367976 (GRCh37)
Canonical SPDI:: NC_000012.12:47974192:C:T
Gene:: COL2A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.10971/39409 (ALFA)
T=0.046296/10 (Qatari)
T=0.04878/4 (PRJEB36033)
T=0.069814/908 (GoESP)
T=0.075/3 (GENOME_DK)
T=0.097321/436 (Estonian)
T=0.098963/13874 (GnomAD)
T=0.099245/368 (TWINSUK)
T=0.101194/390 (ALSPAC)
T=0.102204/102 (GoNL)
T=0.102996/55 (MGP)
T=0.113487/30039 (TOPMED)
T=0.12/72 (NorthernSweden)
T=0.149974/18199 (ExAC)
T=0.154605/47 (FINRISK)
T=0.164136/41274 (GnomAD_exomes)
T=0.167864/841 (1000Genomes)
T=0.168374/13250 (PAGE_STUDY)
T=0.175592/282 (HapMap)
T=0.209693/437 (HGDP_Stanford)
T=0.377525/299 (PRJEB37584)
C=0.4/80 (SGDP_PRJ)
T=0.413681/254 (Vietnamese)
T=0.459386/1346 (KOREAN)
T=0.467795/857 (Korea1K)
T=0.479296/8032 (TOMMO)
C=0.5/7 (Siberian)
HGVS:: NC_000012.12:g.47974193C>T, NC_000012.11:g.48367976C>T, NG_008072.1:g.35310G>A, NM_001844.5:c.4213G>A, NM_001844.4:c.4213G>A, NM_033150.3:c.4006G>A, NM_033150.2:c.4006G>A, XM_017018831.3:c.3667G>A, XM_017018831.2:c.3667G>A, XM_017018831.1:c.3667G>A, XM_017018828.1:c.4357G>A, XM_017018829.1:c.4354G>A, XM_017018830.1:c.4147G>A, XM_047428315.1:c.3667G>A, NP_001835.3:p.Gly1405Ser, NP_149162.2:p.Gly1336Ser, XP_016874320.1:p.Gly1223Ser, XP_016874317.1:p.Gly1453Ser, XP_016874318.1:p.Gly1452Ser, XP_016874319.1:p.Gly1383Ser, XP_047284271.1:p.Gly1223Ser

dbSNP

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