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rs886039530

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886039530(C;T)
Make rs886039530(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position160130547
GeneATP1A2
is asnp
is mentioned by
dbSNPrs886039530
dbSNP (classic)rs886039530
ClinGenrs886039530
ebirs886039530
HLIrs886039530
Exacrs886039530
Gnomadrs886039530
Varsomers886039530
LitVarrs886039530
Maprs886039530
PheGenIrs886039530
Biobankrs886039530
1000 genomesrs886039530
hgdprs886039530
ensemblrs886039530
geneviewrs886039530
scholarrs886039530
googlers886039530
pharmgkbrs886039530
gwascentralrs886039530
openSNPrs886039530
23andMers886039530
23andMe allrs886039530
SNPshotrs886039530
SNPdbers886039530
MSV3drs886039530
GWAS Ctlgrs886039530
Max Magnitude0
ClinVar
Risk rs886039530(T;T)
Alt rs886039530(T;T)
Reference Rs886039530(C;C)
Significance Pathogenic
Disease not provided Epileptic encephalopathy
Variation info
Gene ATP1A2
CLNDBN not provided Epileptic encephalopathy
Reversed 0
HGVS NC_000001.10:g.160100337C>T
CLNSRC
CLNACC RCV000255573.1, RCV000417013.1,