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rs1060501004

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501004(C;C)
Make rs1060501004(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position71223885
GeneGJB1
is asnp
is mentioned by
dbSNPrs1060501004
dbSNP (old)rs1060501004
ClinGenrs1060501004
ebirs1060501004
HLIrs1060501004
Exacrs1060501004
Gnomadrs1060501004
Varsomers1060501004
Maprs1060501004
PheGenIrs1060501004
Biobankrs1060501004
1000 genomesrs1060501004
hgdprs1060501004
ensemblrs1060501004
gopubmedrs1060501004
geneviewrs1060501004
scholarrs1060501004
googlers1060501004
pharmgkbrs1060501004
gwascentralrs1060501004
openSNPrs1060501004
23andMers1060501004
23andMe allrs1060501004
SNPshotrs1060501004
SNPdbers1060501004
MSV3drs1060501004
GWAS Ctlgrs1060501004
Max Magnitude0
ClinVar
Risk rs1060501004(C;C)
Alt rs1060501004(C;C)
Reference Rs1060501004(T;T)
Significance Probable-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.70443735T>C
CLNSRC
CLNACC RCV000456635.1, RCV000493246.1,