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rs483352926

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483352926(C;T)
Make rs483352926(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position71223879
GeneGJB1
is asnp
is mentioned by
dbSNPrs483352926
ebirs483352926
HLIrs483352926
Exacrs483352926
Varsomers483352926
Maprs483352926
PheGenIrs483352926
hapmaprs483352926
1000 genomesrs483352926
hgdprs483352926
ensemblrs483352926
gopubmedrs483352926
geneviewrs483352926
scholarrs483352926
googlers483352926
pharmgkbrs483352926
gwascentralrs483352926
openSNPrs483352926
23andMers483352926
23andMe allrs483352926
SNP Nexus

SNPshotrs483352926
SNPdbers483352926
MSV3drs483352926
GWAS Ctlgrs483352926
Max Magnitude0
ClinVar
Risk rs483352926(T;T)
Alt rs483352926(T;T)
Reference rs483352926(C;C)
Significance Pathogenic
Disease X-linked hereditary motor and sensory neuropathy
Variation info
Gene GJB1
CLNDBN X-linked hereditary motor and sensory neuropathy
Reversed 0
HGVS NC_000023.10:g.70443729C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083303.3,