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rs864622557

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864622557(G;T)
Make rs864622557(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position126554294
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs864622557
ebirs864622557
HLIrs864622557
Exacrs864622557
Varsomers864622557
Maprs864622557
PheGenIrs864622557
hapmaprs864622557
1000 genomesrs864622557
hgdprs864622557
ensemblrs864622557
gopubmedrs864622557
geneviewrs864622557
scholarrs864622557
googlers864622557
pharmgkbrs864622557
gwascentralrs864622557
openSNPrs864622557
23andMers864622557
23andMe allrs864622557
SNP Nexus

SNPshotrs864622557
SNPdbers864622557
MSV3drs864622557
GWAS Ctlgrs864622557
Max Magnitude0
ClinVar
Risk rs864622557(T;T)
Alt rs864622557(T;T)
Reference rs864622557(G;G)
Significance Pathogenic
Disease Pyridoxine-dependent epilepsy
Variation info
Gene ALDH7A1
CLNDBN Pyridoxine-dependent epilepsy
Reversed 1
HGVS NC_000005.9:g.125889986C>A
CLNSRC
CLNACC RCV000205037.2,