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rs398124555

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs398124555(-;T)
Make rs398124555(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28903059
GeneATP2A1
is asnp
is mentioned by
dbSNPrs398124555
dbSNP (classic)rs398124555
ClinGenrs398124555
ebirs398124555
HLIrs398124555
Exacrs398124555
Gnomadrs398124555
Varsomers398124555
LitVarrs398124555
Maprs398124555
PheGenIrs398124555
Biobankrs398124555
1000 genomesrs398124555
hgdprs398124555
ensemblrs398124555
geneviewrs398124555
scholarrs398124555
googlers398124555
pharmgkbrs398124555
gwascentralrs398124555
openSNPrs398124555
23andMers398124555
SNPshotrs398124555
SNPdbers398124555
MSV3drs398124555
GWAS Ctlgrs398124555
Max Magnitude0
ClinVar
Risk rs398124555(T;T)
Alt rs398124555(T;T)
Reference Rs398124555(-;-)
Significance Pathogenic
Disease not provided Brody myopathy
Variation info
Gene NPIPB8 ATP2A1
CLNDBN not provided Brody myopathy
Reversed 0
HGVS NC_000016.9:g.28914380dupT
CLNSRC ClinVar
CLNACC RCV000082698.4, RCV000381455.1,