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rs73415876

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs73415876(A;A)
Make rs73415876(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position37983536
GeneSOX10
is asnp
is mentioned by
dbSNPrs73415876
ebirs73415876
HLIrs73415876
Exacrs73415876
Varsomers73415876
Maprs73415876
PheGenIrs73415876
hapmaprs73415876
1000 genomesrs73415876
hgdprs73415876
ensemblrs73415876
gopubmedrs73415876
geneviewrs73415876
scholarrs73415876
googlers73415876
pharmgkbrs73415876
gwascentralrs73415876
openSNPrs73415876
23andMers73415876
23andMe allrs73415876
SNP Nexus

SNPshotrs73415876
SNPdbers73415876
MSV3drs73415876
GWAS Ctlgrs73415876
GMAF0.03352
Max Magnitude0
OMIM602229
Desc
Variant0002
Relatedalso


ClinVar
Risk rs73415876(A,C,T;A,C,T)
Alt rs73415876(A,C,T;A,C,T)
Reference rs73415876(G;G)
Significance Pathogenic
Disease not specified Waardenburg syndrome type 4C
Variation info
Gene SOX10 POLR2F
CLNDBN not specified Waardenburg syndrome type 4C
Reversed 0
HGVS NC_000022.10:g.38379543G>A; NC_000022.10:g.38379543G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000220081.1, RCV000007818.2,