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rs147764579

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147764579(A;A)
Make rs147764579(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position42401752
GeneCAPN3
is asnp
is mentioned by
dbSNPrs147764579
dbSNP (old)rs147764579
ClinGenrs147764579
ebirs147764579
HLIrs147764579
Exacrs147764579
Gnomadrs147764579
Varsomers147764579
LitVarrs147764579
Maprs147764579
PheGenIrs147764579
Biobankrs147764579
1000 genomesrs147764579
hgdprs147764579
ensemblrs147764579
gopubmedrs147764579
geneviewrs147764579
scholarrs147764579
googlers147764579
pharmgkbrs147764579
gwascentralrs147764579
openSNPrs147764579
23andMers147764579
23andMe allrs147764579
SNPshotrs147764579
SNPdbers147764579
MSV3drs147764579
GWAS Ctlgrs147764579
Max Magnitude0
ClinVar
Risk rs147764579(A;A)
Alt rs147764579(A;A)
Reference Rs147764579(G;G)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42693950G>A
CLNSRC
CLNACC RCV000350336.1,