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rs397515367

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs397515367(-;-)
Make rs397515367(-;GA)
ReferenceGRCh38 38.1/141
Chromosome22
Position37973818
GeneSOX10
is asnp
is mentioned by
dbSNPrs397515367
ebirs397515367
HLIrs397515367
Exacrs397515367
Varsomers397515367
Maprs397515367
PheGenIrs397515367
hapmaprs397515367
1000 genomesrs397515367
hgdprs397515367
ensemblrs397515367
gopubmedrs397515367
geneviewrs397515367
scholarrs397515367
googlers397515367
pharmgkbrs397515367
gwascentralrs397515367
openSNPrs397515367
23andMers397515367
23andMe allrs397515367
SNP Nexus

SNPshotrs397515367
SNPdbers397515367
MSV3drs397515367
GWAS Ctlgrs397515367
Max Magnitude0
ClinVar
Risk rs397515367(;)
Alt rs397515367(;)
Reference rs397515367(GA;GA)
Significance Pathogenic
Disease Waardenburg syndrome type 4C
Variation info
Gene SOX10 POLR2F
CLNDBN Waardenburg syndrome type 4C
Reversed 1
HGVS NC_000022.10:g.38369825_38369826delTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007820.2,