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rs786204095

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204095(C;T)
Make rs786204095(T;T)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position71223823
GeneGJB1
is asnp
is mentioned by
dbSNPrs786204095
ebirs786204095
HLIrs786204095
Exacrs786204095
Varsomers786204095
Maprs786204095
PheGenIrs786204095
hapmaprs786204095
1000 genomesrs786204095
hgdprs786204095
ensemblrs786204095
gopubmedrs786204095
geneviewrs786204095
scholarrs786204095
googlers786204095
pharmgkbrs786204095
gwascentralrs786204095
openSNPrs786204095
23andMers786204095
23andMe allrs786204095
SNP Nexus

SNPshotrs786204095
SNPdbers786204095
MSV3drs786204095
GWAS Ctlgrs786204095
Max Magnitude0
ClinVar
Risk rs786204095(T;T)
Alt rs786204095(T;T)
Reference rs786204095(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth Neuropathy X
Variation info
Gene GJB1
CLNDBN Charcot-Marie-Tooth Neuropathy X
Reversed 0
HGVS NC_000023.10:g.70443673C>T
CLNSRC
CLNACC RCV000168011.1,