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rs587777878

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777878(A;G)
Make rs587777878(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position71224287
GeneGJB1
is asnp
is mentioned by
dbSNPrs587777878
ebirs587777878
HLIrs587777878
Exacrs587777878
Varsomers587777878
Maprs587777878
PheGenIrs587777878
hapmaprs587777878
1000 genomesrs587777878
hgdprs587777878
ensemblrs587777878
gopubmedrs587777878
geneviewrs587777878
scholarrs587777878
googlers587777878
pharmgkbrs587777878
gwascentralrs587777878
openSNPrs587777878
23andMers587777878
23andMe allrs587777878
SNP Nexus

SNPshotrs587777878
SNPdbers587777878
MSV3drs587777878
GWAS Ctlgrs587777878
Max Magnitude0
ClinVar
Risk rs587777878(G;G)
Alt rs587777878(G;G)
Reference rs587777878(A;A)
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.70444137A>G
CLNSRC
CLNACC RCV000143794.1,