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rs1060500998

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060500998(C;C)
Make rs1060500998(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position71223808
GeneGJB1
is asnp
is mentioned by
dbSNPrs1060500998
dbSNP (old)rs1060500998
ClinGenrs1060500998
ebirs1060500998
HLIrs1060500998
Exacrs1060500998
Gnomadrs1060500998
Varsomers1060500998
Maprs1060500998
PheGenIrs1060500998
Biobankrs1060500998
1000 genomesrs1060500998
hgdprs1060500998
ensemblrs1060500998
gopubmedrs1060500998
geneviewrs1060500998
scholarrs1060500998
googlers1060500998
pharmgkbrs1060500998
gwascentralrs1060500998
openSNPrs1060500998
23andMers1060500998
23andMe allrs1060500998
SNPshotrs1060500998
SNPdbers1060500998
MSV3drs1060500998
GWAS Ctlgrs1060500998
Max Magnitude0
ClinVar
Risk rs1060500998(C;C)
Alt rs1060500998(C;C)
Reference Rs1060500998(T;T)
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.70443658T>C
CLNSRC
CLNACC RCV000467465.1,