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rs1060501000

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501000(A;A)
Make rs1060501000(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position71223809
GeneGJB1
is asnp
is mentioned by
dbSNPrs1060501000
dbSNP (old)rs1060501000
ClinGenrs1060501000
ebirs1060501000
HLIrs1060501000
Exacrs1060501000
Gnomadrs1060501000
Varsomers1060501000
Maprs1060501000
PheGenIrs1060501000
Biobankrs1060501000
1000 genomesrs1060501000
hgdprs1060501000
ensemblrs1060501000
gopubmedrs1060501000
geneviewrs1060501000
scholarrs1060501000
googlers1060501000
pharmgkbrs1060501000
gwascentralrs1060501000
openSNPrs1060501000
23andMers1060501000
23andMe allrs1060501000
SNPshotrs1060501000
SNPdbers1060501000
MSV3drs1060501000
GWAS Ctlgrs1060501000
Max Magnitude0
ClinVar
Risk rs1060501000(A;A)
Alt rs1060501000(A;A)
Reference Rs1060501000(G;G)
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.70443659G>A
CLNSRC
CLNACC RCV000468413.1,