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rs201736037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs201736037(A;G)
Make rs201736037(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position42401721
GeneCAPN3
is asnp
is mentioned by
dbSNPrs201736037
dbSNP (classic)rs201736037
ClinGenrs201736037
ebirs201736037
HLIrs201736037
Exacrs201736037
Gnomadrs201736037
Varsomers201736037
LitVarrs201736037
Maprs201736037
PheGenIrs201736037
Biobankrs201736037
1000 genomesrs201736037
hgdprs201736037
ensemblrs201736037
geneviewrs201736037
scholarrs201736037
googlers201736037
pharmgkbrs201736037
gwascentralrs201736037
openSNPrs201736037
23andMers201736037
SNPshotrs201736037
SNPdbers201736037
MSV3drs201736037
GWAS Ctlgrs201736037
Max Magnitude0
ClinVar
Risk rs201736037(G;G)
Alt rs201736037(G;G)
Reference Rs201736037(A;A)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy CAPN3-Related Disorders
Variation info
Gene CAPN3
CLNDBN not provided Limb-girdle muscular dystrophy, type 2A CAPN3-Related Disorders
Reversed 0
HGVS NC_000015.9:g.42693919A>G
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000078086.4, RCV000280277.1, RCV000331519.1,