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

rs587781246

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587781246(C;T)
Make rs587781246(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position71224395
GeneGJB1
is asnp
is mentioned by
dbSNPrs587781246
ebirs587781246
HLIrs587781246
Exacrs587781246
Varsomers587781246
Maprs587781246
PheGenIrs587781246
hapmaprs587781246
1000 genomesrs587781246
hgdprs587781246
ensemblrs587781246
gopubmedrs587781246
geneviewrs587781246
scholarrs587781246
googlers587781246
pharmgkbrs587781246
gwascentralrs587781246
openSNPrs587781246
23andMers587781246
23andMe allrs587781246
SNP Nexus

SNPshotrs587781246
SNPdbers587781246
MSV3drs587781246
GWAS Ctlgrs587781246
Max Magnitude0
ClinVar
Risk rs587781246(T;T)
Alt rs587781246(T;T)
Reference rs587781246(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene GJB1
CLNDBN Charcot-Marie-Tooth disease not provided
Reversed 0
HGVS NC_000023.10:g.70444245C>T
CLNSRC
CLNACC RCV000144863.1, RCV000213596.1,