rs2234926 - SNP

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Select item 22349261.

rs2234926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:171652385 (GRCh38)
1:171621525 (GRCh37)
Canonical SPDI:: NC_000001.11:171652384:C:T
Gene:: MYOC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign,benign,conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.123862/9765 (ALFA)
T=0.033586/563 (TOMMO)
T=0.048359/28 (Vietnamese)
T=0.056223/103 (Korea1K)
T=0.05989/175 (KOREAN)
T=0.075/3 (GENOME_DK)
T=0.093566/24766 (TOPMED)
T=0.098185/1277 (GoESP)
T=0.099698/13976 (GnomAD)
T=0.106667/64 (NorthernSweden)
T=0.123214/552 (Estonian)
T=0.125065/482 (ALSPAC)
T=0.12963/28 (Qatari)
T=0.130529/484 (TWINSUK)
T=0.1307/655 (1000Genomes)
T=0.132959/71 (MGP)
T=0.136273/136 (GoNL)
T=0.147449/37010 (GnomAD_exomes)
T=0.150098/18206 (ExAC)
T=0.151316/46 (FINRISK)
T=0.199647/226 (Daghestan)
C=0.449153/53 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000001.11:g.171652385C>T, NC_000001.10:g.171621525C>T, NG_008859.1:g.5249G>A, NM_000261.2:c.227G>A, NM_000261.1:c.227G>A, NP_000252.1:p.Arg76Lys

Select item 1178050692.

rs117805069 has merged into rs2234926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:171652385 (GRCh38)
1:171621525 (GRCh37)
Canonical SPDI:: NC_000001.11:171652384:C:T
Gene:: MYOC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign,benign,conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.123862/9765 (ALFA)
T=0.033586/563 (TOMMO)
T=0.048359/28 (Vietnamese)
T=0.056223/103 (Korea1K)
T=0.05989/175 (KOREAN)
T=0.075/3 (GENOME_DK)
T=0.093566/24766 (TOPMED)
T=0.098185/1277 (GoESP)
T=0.099698/13976 (GnomAD)
T=0.106667/64 (NorthernSweden)
T=0.123214/552 (Estonian)
T=0.125065/482 (ALSPAC)
T=0.12963/28 (Qatari)
T=0.130529/484 (TWINSUK)
T=0.1307/655 (1000Genomes)
T=0.132959/71 (MGP)
T=0.136273/136 (GoNL)
T=0.147449/37010 (GnomAD_exomes)
T=0.150098/18206 (ExAC)
T=0.151316/46 (FINRISK)
T=0.199647/226 (Daghestan)
C=0.449153/53 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000001.11:g.171652385C>T, NC_000001.10:g.171621525C>T, NG_008859.1:g.5249G>A, NM_000261.2:c.227G>A, NM_000261.1:c.227G>A, NP_000252.1:p.Arg76Lys