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rs1060501002

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501002(A;A)
Make rs1060501002(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position71223772
GeneGJB1
is asnp
is mentioned by
dbSNPrs1060501002
dbSNP (old)rs1060501002
ClinGenrs1060501002
ebirs1060501002
HLIrs1060501002
Exacrs1060501002
Gnomadrs1060501002
Varsomers1060501002
LitVarrs1060501002
Maprs1060501002
PheGenIrs1060501002
Biobankrs1060501002
1000 genomesrs1060501002
hgdprs1060501002
ensemblrs1060501002
gopubmedrs1060501002
geneviewrs1060501002
scholarrs1060501002
googlers1060501002
pharmgkbrs1060501002
gwascentralrs1060501002
openSNPrs1060501002
23andMers1060501002
23andMe allrs1060501002
SNPshotrs1060501002
SNPdbers1060501002
MSV3drs1060501002
GWAS Ctlgrs1060501002
Max Magnitude0
ClinVar
Risk rs1060501002(A;A)
Alt rs1060501002(A;A)
Reference Rs1060501002(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.70443622G>A
CLNSRC
CLNACC RCV000475257.1,