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

rs751230398

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs751230398(A;G)
Make rs751230398(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71223690
GeneGJB1
is asnp
is mentioned by
dbSNPrs751230398
ebirs751230398
HLIrs751230398
Exacrs751230398
Varsomers751230398
Maprs751230398
PheGenIrs751230398
hapmaprs751230398
1000 genomesrs751230398
hgdprs751230398
ensemblrs751230398
gopubmedrs751230398
geneviewrs751230398
scholarrs751230398
googlers751230398
pharmgkbrs751230398
gwascentralrs751230398
openSNPrs751230398
23andMers751230398
23andMe allrs751230398
SNP Nexus

SNPshotrs751230398
SNPdbers751230398
MSV3drs751230398
GWAS Ctlgrs751230398
Max Magnitude0
ClinVar
Risk rs751230398(G,T;G,T)
Alt rs751230398(G,T;G,T)
Reference rs751230398(A;A)
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.70443540A>G
CLNSRC
CLNACC RCV000235072.1,