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rs397515386

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs397515386(-;-)
Make rs397515386(-;AG)
ReferenceGRCh38 38.1/141
Chromosome22
Position37974152
GeneSOX10
is asnp
is mentioned by
dbSNPrs397515386
ebirs397515386
HLIrs397515386
Exacrs397515386
Varsomers397515386
Maprs397515386
PheGenIrs397515386
hapmaprs397515386
1000 genomesrs397515386
hgdprs397515386
ensemblrs397515386
gopubmedrs397515386
geneviewrs397515386
scholarrs397515386
googlers397515386
pharmgkbrs397515386
gwascentralrs397515386
openSNPrs397515386
23andMers397515386
23andMe allrs397515386
SNP Nexus

SNPshotrs397515386
SNPdbers397515386
MSV3drs397515386
GWAS Ctlgrs397515386
Max Magnitude0
ClinVar
Risk rs397515386(;)
Alt rs397515386(;)
Reference rs397515386(AG;AG)
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.38370159_38370160delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023178.4,