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

rs74315516

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315516(C;G)
Make rs74315516(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position37973957
GeneSOX10
is asnp
is mentioned by
dbSNPrs74315516
ebirs74315516
HLIrs74315516
Exacrs74315516
Varsomers74315516
Maprs74315516
PheGenIrs74315516
hapmaprs74315516
1000 genomesrs74315516
hgdprs74315516
ensemblrs74315516
gopubmedrs74315516
geneviewrs74315516
scholarrs74315516
googlers74315516
pharmgkbrs74315516
gwascentralrs74315516
openSNPrs74315516
23andMers74315516
23andMe allrs74315516
SNP Nexus

SNPshotrs74315516
SNPdbers74315516
MSV3drs74315516
GWAS Ctlgrs74315516
Max Magnitude0
OMIM602229
Desc
Variant0006
Relatedalso
ClinVar
Risk rs74315516(A,G;A,G)
Alt rs74315516(A,G;A,G)
Reference rs74315516(C;C)
Significance Pathogenic
Disease Peripheral demyelinating neuropathy
Variation info
Gene SOX10 POLR2F
CLNDBN Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Reversed 1
HGVS NC_000022.10:g.38369964G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007822.2,