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rs1060502612

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060502612(A;A)
Make rs1060502612(A;C)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position154379730
GeneEMD
is asnp
is mentioned by
dbSNPrs1060502612
dbSNP (old)rs1060502612
ClinGenrs1060502612
ebirs1060502612
HLIrs1060502612
Exacrs1060502612
Gnomadrs1060502612
Varsomers1060502612
Maprs1060502612
PheGenIrs1060502612
Biobankrs1060502612
1000 genomesrs1060502612
hgdprs1060502612
ensemblrs1060502612
gopubmedrs1060502612
geneviewrs1060502612
scholarrs1060502612
googlers1060502612
pharmgkbrs1060502612
gwascentralrs1060502612
openSNPrs1060502612
23andMers1060502612
23andMe allrs1060502612
SNPshotrs1060502612
SNPdbers1060502612
MSV3drs1060502612
GWAS Ctlgrs1060502612
Max Magnitude0
ClinVar
Risk rs1060502612(A;A)
Alt rs1060502612(A;A)
Reference Rs1060502612(C;C)
Significance Pathogenic
Disease Emery-Dreifuss muscular dystrophy 1
Variation info
Gene EMD
CLNDBN Emery-Dreifuss muscular dystrophy 1, X-linked
Reversed 0
HGVS NC_000023.10:g.153608090C>A
CLNSRC
CLNACC RCV000458523.1,