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rs774048743

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs774048743(A;A)
Make rs774048743(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42359938
GeneCAPN3
is asnp
is mentioned by
dbSNPrs774048743
ebirs774048743
HLIrs774048743
Exacrs774048743
Varsomers774048743
Maprs774048743
PheGenIrs774048743
hapmaprs774048743
1000 genomesrs774048743
hgdprs774048743
ensemblrs774048743
gopubmedrs774048743
geneviewrs774048743
scholarrs774048743
googlers774048743
pharmgkbrs774048743
gwascentralrs774048743
openSNPrs774048743
23andMers774048743
23andMe allrs774048743
SNP Nexus

SNPshotrs774048743
SNPdbers774048743
MSV3drs774048743
GWAS Ctlgrs774048743
Max Magnitude0
ClinVar
Risk rs774048743(A;A)
Alt rs774048743(A;A)
Reference rs774048743(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42652136G>A
CLNSRC Quest Diagnostics
CLNACC RCV000201177.1,