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rs756928158

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs756928158(A;A)
Make rs756928158(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71223978
GeneGJB1
is asnp
is mentioned by
dbSNPrs756928158
ebirs756928158
HLIrs756928158
Exacrs756928158
Varsomers756928158
Maprs756928158
PheGenIrs756928158
hapmaprs756928158
1000 genomesrs756928158
hgdprs756928158
ensemblrs756928158
gopubmedrs756928158
geneviewrs756928158
scholarrs756928158
googlers756928158
pharmgkbrs756928158
gwascentralrs756928158
openSNPrs756928158
23andMers756928158
23andMe allrs756928158
SNP Nexus

SNPshotrs756928158
SNPdbers756928158
MSV3drs756928158
GWAS Ctlgrs756928158
Max Magnitude0
ClinVar
Risk rs756928158(A;A)
Alt rs756928158(A;A)
Reference Rs756928158(G;G)
Significance Probable-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.70443828G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000175537.1,