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rs864622558

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864622558(A;A)
Make rs864622558(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position126559262
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs864622558
ebirs864622558
HLIrs864622558
Exacrs864622558
Varsomers864622558
Maprs864622558
PheGenIrs864622558
hapmaprs864622558
1000 genomesrs864622558
hgdprs864622558
ensemblrs864622558
gopubmedrs864622558
geneviewrs864622558
scholarrs864622558
googlers864622558
pharmgkbrs864622558
gwascentralrs864622558
openSNPrs864622558
23andMers864622558
23andMe allrs864622558
SNP Nexus

SNPshotrs864622558
SNPdbers864622558
MSV3drs864622558
GWAS Ctlgrs864622558
Max Magnitude0
ClinVar
Risk rs864622558(A;A)
Alt rs864622558(A;A)
Reference rs864622558(G;G)
Significance Pathogenic
Disease Pyridoxine-dependent epilepsy
Variation info
Gene ALDH7A1
CLNDBN Pyridoxine-dependent epilepsy
Reversed 1
HGVS NC_000005.9:g.125894954C>T
CLNSRC
CLNACC RCV000206370.2,