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rs74315519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315519(C;G)
Make rs74315519(G;G)
ReferenceGRCh37 37.1/132
Chromosome22
Position38373950
GeneSOX10
is asnp
is mentioned by
dbSNPrs74315519
ebirs74315519
HLIrs74315519
Exacrs74315519
Varsomers74315519
Maprs74315519
PheGenIrs74315519
hapmaprs74315519
1000 genomesrs74315519
hgdprs74315519
ensemblrs74315519
gopubmedrs74315519
geneviewrs74315519
scholarrs74315519
googlers74315519
pharmgkbrs74315519
gwascentralrs74315519
openSNPrs74315519
23andMers74315519
23andMe allrs74315519
SNP Nexus

SNPshotrs74315519
SNPdbers74315519
MSV3drs74315519
GWAS Ctlgrs74315519
StatusDeleted
Max Magnitude0
OMIM602229
Desc
Variant0009
Relatedalso
ClinVar
Risk rs74315519(G;G)
Alt rs74315519(G;G)
Reference rs74315519(C;C)
Significance Pathogenic
Disease Waardenburg syndrome
Variation info
Gene SOX10
CLNDBN Waardenburg syndrome, type 4c
Reversed 1
HGVS NC_000022.10:g.38373950G>C
CLNSRC OMIM Allelic Variant
CLNACC SCV000028030.1,