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rs121918114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918114(A;A)
Make rs121918114(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position28900841
GeneATP2A1
is asnp
is mentioned by
dbSNPrs121918114
ebirs121918114
HLIrs121918114
Exacrs121918114
Varsomers121918114
Maprs121918114
PheGenIrs121918114
hapmaprs121918114
1000 genomesrs121918114
hgdprs121918114
ensemblrs121918114
gopubmedrs121918114
geneviewrs121918114
scholarrs121918114
googlers121918114
pharmgkbrs121918114
gwascentralrs121918114
openSNPrs121918114
23andMers121918114
23andMe allrs121918114
SNP Nexus

SNPshotrs121918114
SNPdbers121918114
MSV3drs121918114
GWAS Ctlgrs121918114
Max Magnitude0
OMIM108730
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918114(A;A)
Alt rs121918114(A;A)
Reference rs121918114(C;C)
Significance Pathogenic
Disease Brody myopathy
Variation info
Gene NPIPB8 ATP2A1
CLNDBN Brody myopathy
Reversed 0
HGVS NC_000016.9:g.28912162C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019381.23,