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rs397515366

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397515366(-;-)
Make rs397515366(-;GCTCCT)
Make rs397515366(GCTCCT;GCTCCT)
ReferenceGRCh38 38.1/141
Chromosome22
Position37978081
GeneSOX10
is asnp
is mentioned by
dbSNPrs397515366
ebirs397515366
HLIrs397515366
Exacrs397515366
Varsomers397515366
Maprs397515366
PheGenIrs397515366
hapmaprs397515366
1000 genomesrs397515366
hgdprs397515366
ensemblrs397515366
gopubmedrs397515366
geneviewrs397515366
scholarrs397515366
googlers397515366
pharmgkbrs397515366
gwascentralrs397515366
openSNPrs397515366
23andMers397515366
23andMe allrs397515366
SNP Nexus

SNPshotrs397515366
SNPdbers397515366
MSV3drs397515366
GWAS Ctlgrs397515366
Max Magnitude0
ClinVar
Risk rs397515366(GCTCCT;GCTCCT)
Alt rs397515366(GCTCCT;GCTCCT)
Reference rs397515366(;)
Significance Pathogenic
Disease Waardenburg syndrome type 4C
Variation info
Gene SOX10 POLR2F
CLNDBN Waardenburg syndrome type 4C
Reversed 1
HGVS NC_000022.10:g.38374088_38374089insAGGAGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007819.2,