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rs1057516032

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGACT;AGACT) 0 common in clinvar
Make rs1057516032(AGACT;TC)
Make rs1057516032(TC;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position41970211
GeneATP1A3
is asnp
is mentioned by
dbSNPrs1057516032
dbSNP (old)rs1057516032
ClinGenrs1057516032
ebirs1057516032
HLIrs1057516032
Exacrs1057516032
Gnomadrs1057516032
Varsomers1057516032
LitVarrs1057516032
Maprs1057516032
PheGenIrs1057516032
Biobankrs1057516032
1000 genomesrs1057516032
hgdprs1057516032
ensemblrs1057516032
gopubmedrs1057516032
geneviewrs1057516032
scholarrs1057516032
googlers1057516032
pharmgkbrs1057516032
gwascentralrs1057516032
openSNPrs1057516032
23andMers1057516032
23andMe allrs1057516032
SNPshotrs1057516032
SNPdbers1057516032
MSV3drs1057516032
GWAS Ctlgrs1057516032
Max Magnitude0
ClinVar
Risk rs1057516032(TC;TC)
Alt rs1057516032(TC;TC)
Reference Rs1057516032(AGACT;AGACT)
Significance Pathogenic
Disease Alternating hemiplegia of childhood 2
Variation info
Gene ATP1A3
CLNDBN Alternating hemiplegia of childhood 2
Reversed 1
HGVS NC_000019.9:g.42474363_42474367delAGTCTinsGA
CLNSRC
CLNACC RCV000408604.1,