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rs74315520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315520(C;T)
Make rs74315520(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position37973767
GeneSOX10
is asnp
is mentioned by
dbSNPrs74315520
ebirs74315520
HLIrs74315520
Exacrs74315520
Varsomers74315520
Maprs74315520
PheGenIrs74315520
hapmaprs74315520
1000 genomesrs74315520
hgdprs74315520
ensemblrs74315520
gopubmedrs74315520
geneviewrs74315520
scholarrs74315520
googlers74315520
pharmgkbrs74315520
gwascentralrs74315520
openSNPrs74315520
23andMers74315520
23andMe allrs74315520
SNP Nexus

SNPshotrs74315520
SNPdbers74315520
MSV3drs74315520
GWAS Ctlgrs74315520
Max Magnitude0
OMIM602229
Desc
Variant0010
Relatedalso
ClinVar
Risk rs74315520(T;T)
Alt rs74315520(T;T)
Reference rs74315520(C;C)
Significance Pathogenic
Disease Waardenburg syndrome type 4C Waardenburg syndrome type 2E
Variation info
Gene SOX10 POLR2F
CLNDBN Waardenburg syndrome type 4C Waardenburg syndrome type 2E, with neurologic involvement
Reversed 1
HGVS NC_000022.10:g.38369774G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007826.2, RCV000007827.2,