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rs766339195

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs766339195(A;A)
Make rs766339195(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position46755524
GeneFKRP
is asnp
is mentioned by
dbSNPrs766339195
ebirs766339195
HLIrs766339195
Exacrs766339195
Varsomers766339195
Maprs766339195
PheGenIrs766339195
hapmaprs766339195
1000 genomesrs766339195
hgdprs766339195
ensemblrs766339195
gopubmedrs766339195
geneviewrs766339195
scholarrs766339195
googlers766339195
pharmgkbrs766339195
gwascentralrs766339195
openSNPrs766339195
23andMers766339195
23andMe allrs766339195
SNP Nexus

SNPshotrs766339195
SNPdbers766339195
MSV3drs766339195
GWAS Ctlgrs766339195
Max Magnitude0
ClinVar
Risk rs766339195(A,T;A,T)
Alt rs766339195(A,T;A,T)
Reference rs766339195(C;C)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene FKRP
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Reversed 0
HGVS NC_000019.9:g.47258781C>A
CLNSRC
CLNACC RCV000226653.1,