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rs768834663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs768834663(A;A)
Make rs768834663(A;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71223790
GeneGJB1
is asnp
is mentioned by
dbSNPrs768834663
dbSNP (old)rs768834663
ClinGenrs768834663
ebirs768834663
HLIrs768834663
Exacrs768834663
Gnomadrs768834663
Varsomers768834663
Maprs768834663
PheGenIrs768834663
Biobankrs768834663
1000 genomesrs768834663
hgdprs768834663
ensemblrs768834663
gopubmedrs768834663
geneviewrs768834663
scholarrs768834663
googlers768834663
pharmgkbrs768834663
gwascentralrs768834663
openSNPrs768834663
23andMers768834663
23andMe allrs768834663
SNP Nexus

SNPshotrs768834663
SNPdbers768834663
MSV3drs768834663
GWAS Ctlgrs768834663
Max Magnitude0
ClinVar
Risk rs768834663(A;A) rs768834663(C;C)
Alt rs768834663(A;A) rs768834663(C;C)
Reference Rs768834663(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth Neuropathy X not provided
Variation info
Gene GJB1
CLNDBN Charcot-Marie-Tooth Neuropathy X not provided
Reversed 0
HGVS NC_000023.10:g.70443640T>A; NC_000023.10:g.70443640T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000198281.2, RCV000235732.2,