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rs1060502109

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060502109(A;A)
Make rs1060502109(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position46756533
GeneFKRP
is asnp
is mentioned by
dbSNPrs1060502109
dbSNP (old)rs1060502109
ClinGenrs1060502109
ebirs1060502109
HLIrs1060502109
Exacrs1060502109
Gnomadrs1060502109
Varsomers1060502109
Maprs1060502109
PheGenIrs1060502109
Biobankrs1060502109
1000 genomesrs1060502109
hgdprs1060502109
ensemblrs1060502109
gopubmedrs1060502109
geneviewrs1060502109
scholarrs1060502109
googlers1060502109
pharmgkbrs1060502109
gwascentralrs1060502109
openSNPrs1060502109
23andMers1060502109
23andMe allrs1060502109
SNPshotrs1060502109
SNPdbers1060502109
MSV3drs1060502109
GWAS Ctlgrs1060502109
Max Magnitude0
ClinVar
Risk rs1060502109(A;A)
Alt rs1060502109(A;A)
Reference Rs1060502109(C;C)
Significance Pathogenic
Disease Walker-Warburg congenital muscular dystrophy
Variation info
Gene FKRP
CLNDBN Walker-Warburg congenital muscular dystrophy
Reversed 0
HGVS NC_000019.9:g.47259790C>A
CLNSRC
CLNACC RCV000461046.1,