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rs786204123

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204123(A;A)
Make rs786204123(A;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position71224132
GeneGJB1
is asnp
is mentioned by
dbSNPrs786204123
ebirs786204123
HLIrs786204123
Exacrs786204123
Varsomers786204123
Maprs786204123
PheGenIrs786204123
hapmaprs786204123
1000 genomesrs786204123
hgdprs786204123
ensemblrs786204123
gopubmedrs786204123
geneviewrs786204123
scholarrs786204123
googlers786204123
pharmgkbrs786204123
gwascentralrs786204123
openSNPrs786204123
23andMers786204123
23andMe allrs786204123
SNP Nexus

SNPshotrs786204123
SNPdbers786204123
MSV3drs786204123
GWAS Ctlgrs786204123
Max Magnitude0
ClinVar
Risk rs786204123(A;A)
Alt rs786204123(A;A)
Reference rs786204123(G;G)
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.70443982G>A
CLNSRC
CLNACC RCV000168077.1,