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rs557052809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs557052809(C;T)
Make rs557052809(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position41975629
GeneATP1A3
is asnp
is mentioned by
dbSNPrs557052809
ebirs557052809
HLIrs557052809
Exacrs557052809
Varsomers557052809
Maprs557052809
PheGenIrs557052809
hapmaprs557052809
1000 genomesrs557052809
hgdprs557052809
ensemblrs557052809
gopubmedrs557052809
geneviewrs557052809
scholarrs557052809
googlers557052809
pharmgkbrs557052809
gwascentralrs557052809
openSNPrs557052809
23andMers557052809
23andMe allrs557052809
SNP Nexus

SNPshotrs557052809
SNPdbers557052809
MSV3drs557052809
GWAS Ctlgrs557052809
Max Magnitude0
ClinVar
Risk rs557052809(A,T;A,T)
Alt rs557052809(A,T;A,T)
Reference rs557052809(C;C)
Significance Pathogenic
Disease Alternating hemiplegia of childhood 2
Variation info
Gene ATP1A3
CLNDBN Alternating hemiplegia of childhood 2
Reversed 0
HGVS NC_000019.9:g.42479781C>A; NC_000019.9:g.42479781C>T
CLNSRC ClinVar
CLNACC RCV000148314.1, RCV000148313.1,