Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918113(C;T)
Make rs121918113(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28887236
GeneATP2A1
is asnp
is mentioned by
dbSNPrs121918113
ebirs121918113
HLIrs121918113
Exacrs121918113
Varsomers121918113
Maprs121918113
PheGenIrs121918113
hapmaprs121918113
1000 genomesrs121918113
hgdprs121918113
ensemblrs121918113
gopubmedrs121918113
geneviewrs121918113
scholarrs121918113
googlers121918113
pharmgkbrs121918113
gwascentralrs121918113
openSNPrs121918113
23andMers121918113
23andMe allrs121918113
SNP Nexus

SNPshotrs121918113
SNPdbers121918113
MSV3drs121918113
GWAS Ctlgrs121918113
Max Magnitude0
OMIM108730
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918113(T;T)
Alt rs121918113(T;T)
Reference rs121918113(C;C)
Significance Pathogenic
Disease Brody myopathy
Variation info
Gene NPIPB8 ATP2A1
CLNDBN Brody myopathy
Reversed 0
HGVS NC_000016.9:g.28898557C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019380.23,