Have questions? Visit https://www.reddit.com/r/SNPedia

rs397515387

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515387(-;-)
Make rs397515387(-;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position37983672
GeneSOX10
is asnp
is mentioned by
dbSNPrs397515387
ebirs397515387
HLIrs397515387
Exacrs397515387
Varsomers397515387
Maprs397515387
PheGenIrs397515387
hapmaprs397515387
1000 genomesrs397515387
hgdprs397515387
ensemblrs397515387
gopubmedrs397515387
geneviewrs397515387
scholarrs397515387
googlers397515387
pharmgkbrs397515387
gwascentralrs397515387
openSNPrs397515387
23andMers397515387
23andMe allrs397515387
SNP Nexus

SNPshotrs397515387
SNPdbers397515387
MSV3drs397515387
GWAS Ctlgrs397515387
Max Magnitude0
ClinVar
Risk rs397515387(;)
Alt rs397515387(;)
Reference rs397515387(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.38379679delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000023179.5,