rs7624750 - SNP

Select item 76247501.

rs7624750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:193617202 (GRCh38)
3:193334991 (GRCh37)
Canonical SPDI:: NC_000003.12:193617201:G:A
Gene:: OPA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.46504/166633 (ALFA)
G=0.320896/129 (SGDP_PRJ)
A=0.330915/5546 (TOMMO)
A=0.345524/633 (Korea1K)
A=0.365188/1070 (KOREAN)
A=0.387342/306 (PRJEB37584)
G=0.409091/18 (Siberian)
A=0.412037/89 (Qatari)
A=0.412052/253 (Vietnamese)
G=0.424342/129 (FINRISK)
A=0.434629/492 (Daghestan)
A=0.43633/233 (MGP)
A=0.451056/940 (HGDP_Stanford)
A=0.463053/1717 (TWINSUK)
A=0.467493/117207 (GnomAD_exomes)
A=0.468274/56738 (ExAC)
A=0.468864/1807 (ALSPAC)
A=0.468926/2348 (1000Genomes)
A=0.46994/469 (GoNL)
G=0.473684/18 (PRJEB36033)
A=0.475/19 (GENOME_DK)
G=0.478125/2142 (Estonian)
A=0.478158/37631 (PAGE_STUDY)
G=0.481667/289 (NorthernSweden)
A=0.489759/813 (HapMap)
A=0.490997/129962 (TOPMED)
A=0.497/6462 (GoESP)
G=0.497764/69671 (GnomAD)
HGVS:: NC_000003.12:g.193617202G>A, NC_000003.11:g.193334991G>A, NG_011605.1:g.29059G>A, NM_130837.3:c.473G>A, NM_130837.2:c.473G>A, NM_130836.3:c.473G>A, NM_130836.2:c.473G>A, NM_130834.3:c.473G>A, NM_130834.2:c.473G>A, NM_015560.3:c.473G>A, NM_015560.2:c.473G>A, NM_001354664.2:c.101G>A, NM_001354664.1:c.101G>A, XM_047448212.1:c.101G>A, XM_047448206.1:c.473G>A, XM_047448207.1:c.473G>A, XM_047448208.1:c.473G>A, XM_047448210.1:c.473G>A, XM_047448213.1:c.473G>A, NP_570850.2:p.Ser158Asn, NP_570849.2:p.Ser158Asn, NP_570847.2:p.Ser158Asn, NP_056375.2:p.Ser158Asn, NP_001341593.1:p.Ser34Asn, XP_047304168.1:p.Ser34Asn, XP_047304162.1:p.Ser158Asn, XP_047304163.1:p.Ser158Asn, XP_047304164.1:p.Ser158Asn, XP_047304166.1:p.Ser158Asn, XP_047304169.1:p.Ser158Asn

PubMed LitVar

Select item 586551702.

rs58655170 has merged into rs7624750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:193617202 (GRCh38)
3:193334991 (GRCh37)
Canonical SPDI:: NC_000003.12:193617201:G:A
Gene:: OPA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.46504/166633 (ALFA)
G=0.320896/129 (SGDP_PRJ)
A=0.330915/5546 (TOMMO)
A=0.345524/633 (Korea1K)
A=0.365188/1070 (KOREAN)
A=0.387342/306 (PRJEB37584)
G=0.409091/18 (Siberian)
A=0.412037/89 (Qatari)
A=0.412052/253 (Vietnamese)
G=0.424342/129 (FINRISK)
A=0.434629/492 (Daghestan)
A=0.43633/233 (MGP)
A=0.451056/940 (HGDP_Stanford)
A=0.463053/1717 (TWINSUK)
A=0.467493/117207 (GnomAD_exomes)
A=0.468274/56738 (ExAC)
A=0.468864/1807 (ALSPAC)
A=0.468926/2348 (1000Genomes)
A=0.46994/469 (GoNL)
G=0.473684/18 (PRJEB36033)
A=0.475/19 (GENOME_DK)
G=0.478125/2142 (Estonian)
A=0.478158/37631 (PAGE_STUDY)
G=0.481667/289 (NorthernSweden)
A=0.489759/813 (HapMap)
A=0.490997/129962 (TOPMED)
A=0.497/6462 (GoESP)
G=0.497764/69671 (GnomAD)
HGVS:: NC_000003.12:g.193617202G>A, NC_000003.11:g.193334991G>A, NG_011605.1:g.29059G>A, NM_130837.3:c.473G>A, NM_130837.2:c.473G>A, NM_130836.3:c.473G>A, NM_130836.2:c.473G>A, NM_130834.3:c.473G>A, NM_130834.2:c.473G>A, NM_015560.3:c.473G>A, NM_015560.2:c.473G>A, NM_001354664.2:c.101G>A, NM_001354664.1:c.101G>A, XM_047448212.1:c.101G>A, XM_047448206.1:c.473G>A, XM_047448207.1:c.473G>A, XM_047448208.1:c.473G>A, XM_047448210.1:c.473G>A, XM_047448213.1:c.473G>A, NP_570850.2:p.Ser158Asn, NP_570849.2:p.Ser158Asn, NP_570847.2:p.Ser158Asn, NP_056375.2:p.Ser158Asn, NP_001341593.1:p.Ser34Asn, XP_047304168.1:p.Ser34Asn, XP_047304162.1:p.Ser158Asn, XP_047304163.1:p.Ser158Asn, XP_047304164.1:p.Ser158Asn, XP_047304166.1:p.Ser158Asn, XP_047304169.1:p.Ser158Asn

Select item 528061583.

rs52806158 has merged into rs7624750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:193617202 (GRCh38)
3:193334991 (GRCh37)
Canonical SPDI:: NC_000003.12:193617201:G:A
Gene:: OPA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.46504/166633 (ALFA)
G=0.320896/129 (SGDP_PRJ)
A=0.330915/5546 (TOMMO)
A=0.345524/633 (Korea1K)
A=0.365188/1070 (KOREAN)
A=0.387342/306 (PRJEB37584)
G=0.409091/18 (Siberian)
A=0.412037/89 (Qatari)
A=0.412052/253 (Vietnamese)
G=0.424342/129 (FINRISK)
A=0.434629/492 (Daghestan)
A=0.43633/233 (MGP)
A=0.451056/940 (HGDP_Stanford)
A=0.463053/1717 (TWINSUK)
A=0.467493/117207 (GnomAD_exomes)
A=0.468274/56738 (ExAC)
A=0.468864/1807 (ALSPAC)
A=0.468926/2348 (1000Genomes)
A=0.46994/469 (GoNL)
G=0.473684/18 (PRJEB36033)
A=0.475/19 (GENOME_DK)
G=0.478125/2142 (Estonian)
A=0.478158/37631 (PAGE_STUDY)
G=0.481667/289 (NorthernSweden)
A=0.489759/813 (HapMap)
A=0.490997/129962 (TOPMED)
A=0.497/6462 (GoESP)
G=0.497764/69671 (GnomAD)
HGVS:: NC_000003.12:g.193617202G>A, NC_000003.11:g.193334991G>A, NG_011605.1:g.29059G>A, NM_130837.3:c.473G>A, NM_130837.2:c.473G>A, NM_130836.3:c.473G>A, NM_130836.2:c.473G>A, NM_130834.3:c.473G>A, NM_130834.2:c.473G>A, NM_015560.3:c.473G>A, NM_015560.2:c.473G>A, NM_001354664.2:c.101G>A, NM_001354664.1:c.101G>A, XM_047448212.1:c.101G>A, XM_047448206.1:c.473G>A, XM_047448207.1:c.473G>A, XM_047448208.1:c.473G>A, XM_047448210.1:c.473G>A, XM_047448213.1:c.473G>A, NP_570850.2:p.Ser158Asn, NP_570849.2:p.Ser158Asn, NP_570847.2:p.Ser158Asn, NP_056375.2:p.Ser158Asn, NP_001341593.1:p.Ser34Asn, XP_047304168.1:p.Ser34Asn, XP_047304162.1:p.Ser158Asn, XP_047304163.1:p.Ser158Asn, XP_047304164.1:p.Ser158Asn, XP_047304166.1:p.Ser158Asn, XP_047304169.1:p.Ser158Asn

dbSNP

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