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rs730882052

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730882052(A;G)
Make rs730882052(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position160195976
GeneCASQ1
is asnp
is mentioned by
dbSNPrs730882052
ebirs730882052
HLIrs730882052
Exacrs730882052
Varsomers730882052
Maprs730882052
PheGenIrs730882052
hapmaprs730882052
1000 genomesrs730882052
hgdprs730882052
ensemblrs730882052
gopubmedrs730882052
geneviewrs730882052
scholarrs730882052
googlers730882052
pharmgkbrs730882052
gwascentralrs730882052
openSNPrs730882052
23andMers730882052
23andMe allrs730882052
SNP Nexus

SNPshotrs730882052
SNPdbers730882052
MSV3drs730882052
GWAS Ctlgrs730882052
Max Magnitude0
ClinVar
Risk rs730882052(G;G)
Alt rs730882052(G;G)
Reference rs730882052(A;A)
Significance Pathogenic
Disease Myopathy
Variation info
Gene CASQ1
CLNDBN Myopathy, vacuolar, with casq1 aggregates
Reversed 0
HGVS NC_000001.10:g.160165766A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000161143.2,