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

rs74315518

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315518(A;A)
Make rs74315518(A;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position37974144
GeneSOX10
is asnp
is mentioned by
dbSNPrs74315518
ebirs74315518
HLIrs74315518
Exacrs74315518
Varsomers74315518
Maprs74315518
PheGenIrs74315518
hapmaprs74315518
1000 genomesrs74315518
hgdprs74315518
ensemblrs74315518
gopubmedrs74315518
geneviewrs74315518
scholarrs74315518
googlers74315518
pharmgkbrs74315518
gwascentralrs74315518
openSNPrs74315518
23andMers74315518
23andMe allrs74315518
SNP Nexus

SNPshotrs74315518
SNPdbers74315518
MSV3drs74315518
GWAS Ctlgrs74315518
Max Magnitude0
OMIM602229
Desc
Variant0007
Relatedalso
ClinVar
Risk rs74315518(A;A)
Alt rs74315518(A;A)
Reference rs74315518(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.38370151G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007823.2,