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rs74315521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315521(C;T)
Make rs74315521(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position37974148
GeneSOX10
is asnp
is mentioned by
dbSNPrs74315521
ebirs74315521
HLIrs74315521
Exacrs74315521
Varsomers74315521
Maprs74315521
PheGenIrs74315521
hapmaprs74315521
1000 genomesrs74315521
hgdprs74315521
ensemblrs74315521
gopubmedrs74315521
geneviewrs74315521
scholarrs74315521
googlers74315521
pharmgkbrs74315521
gwascentralrs74315521
openSNPrs74315521
23andMers74315521
23andMe allrs74315521
SNP Nexus

SNPshotrs74315521
SNPdbers74315521
MSV3drs74315521
GWAS Ctlgrs74315521
Max Magnitude0
OMIM602229
Desc
Variant0011
Relatedalso
ClinVar
Risk rs74315521(T;T)
Alt rs74315521(T;T)
Reference rs74315521(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.38370155G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007828.3,