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rs752582904

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs752582904(C;G)
Make rs752582904(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position46756397
GeneFKRP
is asnp
is mentioned by
dbSNPrs752582904
dbSNP (old)rs752582904
ClinGenrs752582904
ebirs752582904
HLIrs752582904
Exacrs752582904
Gnomadrs752582904
Varsomers752582904
Maprs752582904
PheGenIrs752582904
Biobankrs752582904
1000 genomesrs752582904
hgdprs752582904
ensemblrs752582904
gopubmedrs752582904
geneviewrs752582904
scholarrs752582904
googlers752582904
pharmgkbrs752582904
gwascentralrs752582904
openSNPrs752582904
23andMers752582904
23andMe allrs752582904
SNPshotrs752582904
SNPdbers752582904
MSV3drs752582904
GWAS Ctlgrs752582904
Max Magnitude0
ClinVar
Risk rs752582904(G;G)
Alt rs752582904(G;G)
Reference Rs752582904(C;C)
Significance Probable-Pathogenic
Disease not provided Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene FKRP
CLNDBN not provided Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Reversed 0
HGVS NC_000019.9:g.47259654C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000178359.1, RCV000263428.1,