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rs878853697

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878853697(C;G)
Make rs878853697(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71223915
GeneGJB1
is asnp
is mentioned by
dbSNPrs878853697
ebirs878853697
HLIrs878853697
Exacrs878853697
Varsomers878853697
Maprs878853697
PheGenIrs878853697
hapmaprs878853697
1000 genomesrs878853697
hgdprs878853697
ensemblrs878853697
gopubmedrs878853697
geneviewrs878853697
scholarrs878853697
googlers878853697
pharmgkbrs878853697
gwascentralrs878853697
openSNPrs878853697
23andMers878853697
23andMe allrs878853697
SNP Nexus

SNPshotrs878853697
SNPdbers878853697
MSV3drs878853697
GWAS Ctlgrs878853697
Max Magnitude0
ClinVar
Risk rs878853697(G;G)
Alt rs878853697(G;G)
Reference rs878853697(C;C)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth Neuropathy X
Variation info
Gene GJB1
CLNDBN Charcot-Marie-Tooth Neuropathy X
Reversed 0
HGVS NC_000023.10:g.70443765C>G
CLNSRC
CLNACC RCV000231475.1,