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rs74315514

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315514(G;T)
Make rs74315514(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position37977999
GeneSOX10
is asnp
is mentioned by
dbSNPrs74315514
ebirs74315514
HLIrs74315514
Exacrs74315514
Varsomers74315514
Maprs74315514
PheGenIrs74315514
hapmaprs74315514
1000 genomesrs74315514
hgdprs74315514
ensemblrs74315514
gopubmedrs74315514
geneviewrs74315514
scholarrs74315514
googlers74315514
pharmgkbrs74315514
gwascentralrs74315514
openSNPrs74315514
23andMers74315514
23andMe allrs74315514
SNP Nexus

SNPshotrs74315514
SNPdbers74315514
MSV3drs74315514
GWAS Ctlgrs74315514
Max Magnitude0
OMIM602229
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315514(T;T)
Alt rs74315514(T;T)
Reference rs74315514(G;G)
Significance Pathogenic
Disease Waardenburg syndrome type 4C
Variation info
Gene SOX10 POLR2F
CLNDBN Waardenburg syndrome type 4C
Reversed 1
HGVS NC_000022.10:g.38374006C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007817.2,