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rs74315515

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315515(C;C)
Make rs74315515(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position37983381
GeneSOX10
is asnp
is mentioned by
dbSNPrs74315515
ebirs74315515
HLIrs74315515
Exacrs74315515
Varsomers74315515
Maprs74315515
PheGenIrs74315515
hapmaprs74315515
1000 genomesrs74315515
hgdprs74315515
ensemblrs74315515
gopubmedrs74315515
geneviewrs74315515
scholarrs74315515
googlers74315515
pharmgkbrs74315515
gwascentralrs74315515
openSNPrs74315515
23andMers74315515
23andMe allrs74315515
SNP Nexus

SNPshotrs74315515
SNPdbers74315515
MSV3drs74315515
GWAS Ctlgrs74315515
Max Magnitude0
OMIM602229
Desc
Variant0005
Relatedalso
ClinVar
Risk rs74315515(C;C)
Alt rs74315515(C;C)
Reference rs74315515(G;G)
Significance Pathogenic
Disease Waardenburg syndrome type 2E
Variation info
Gene SOX10 POLR2F
CLNDBN Waardenburg syndrome type 2E, without neurologic involvement
Reversed 1
HGVS NC_000022.10:g.38379388C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007821.2,