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rs398124554

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124554(-;-)
Make rs398124554(-;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position28902650
GeneATP2A1
is asnp
is mentioned by
dbSNPrs398124554
dbSNP (classic)rs398124554
ClinGenrs398124554
ebirs398124554
HLIrs398124554
Exacrs398124554
Gnomadrs398124554
Varsomers398124554
LitVarrs398124554
Maprs398124554
PheGenIrs398124554
Biobankrs398124554
1000 genomesrs398124554
hgdprs398124554
ensemblrs398124554
geneviewrs398124554
scholarrs398124554
googlers398124554
pharmgkbrs398124554
gwascentralrs398124554
openSNPrs398124554
23andMers398124554
SNPshotrs398124554
SNPdbers398124554
MSV3drs398124554
GWAS Ctlgrs398124554
Max Magnitude0
ClinVar
Risk rs398124554(-;-)
Alt rs398124554(-;-)
Reference Rs398124554(C;C)
Significance Pathogenic
Disease not provided Brody myopathy
Variation info
Gene NPIPB8 ATP2A1
CLNDBN not provided Brody myopathy
Reversed 0
HGVS NC_000016.9:g.28913971delC
CLNSRC ClinVar
CLNACC RCV000082697.4, RCV000326788.1,