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rs121909117

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909117(C;T)
Make rs121909117(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position37978094
GeneSOX10
is asnp
is mentioned by
dbSNPrs121909117
ebirs121909117
HLIrs121909117
Exacrs121909117
Varsomers121909117
Maprs121909117
PheGenIrs121909117
hapmaprs121909117
1000 genomesrs121909117
hgdprs121909117
ensemblrs121909117
gopubmedrs121909117
geneviewrs121909117
scholarrs121909117
googlers121909117
pharmgkbrs121909117
gwascentralrs121909117
openSNPrs121909117
23andMers121909117
23andMe allrs121909117
SNP Nexus

SNPshotrs121909117
SNPdbers121909117
MSV3drs121909117
GWAS Ctlgrs121909117
Max Magnitude0
OMIM602229
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121909117(T;T)
Alt rs121909117(T;T)
Reference rs121909117(C;C)
Significance Pathogenic
Disease Waardenburg syndrome type 4C
Variation info
Gene SOX10 POLR2F
CLNDBN Waardenburg syndrome type 4C
Reversed 1
HGVS NC_000022.10:g.38374101G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007833.5,