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rs483353058

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483353058(C;G)
Make rs483353058(G;G)
ReferenceGRCh38 38.1/142
Chromosome22
Position37973769
GeneSOX10
is asnp
is mentioned by
dbSNPrs483353058
ebirs483353058
HLIrs483353058
Exacrs483353058
Varsomers483353058
Maprs483353058
PheGenIrs483353058
hapmaprs483353058
1000 genomesrs483353058
hgdprs483353058
ensemblrs483353058
gopubmedrs483353058
geneviewrs483353058
scholarrs483353058
googlers483353058
pharmgkbrs483353058
gwascentralrs483353058
openSNPrs483353058
23andMers483353058
23andMe allrs483353058
SNP Nexus

SNPshotrs483353058
SNPdbers483353058
MSV3drs483353058
GWAS Ctlgrs483353058
Max Magnitude0
ClinVar
Risk rs483353058(G;G)
Alt rs483353058(G;G)
Reference rs483353058(C;C)
Significance Probable-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.38369776G>C
CLNSRC ClinVar
CLNACC RCV000119813.1,