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rs144701796

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Carrier of a pyridoxine-dependent epilepsy mutation
Make rs144701796(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position126549976
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs144701796
dbSNP (classic)rs144701796
ClinGenrs144701796
ebirs144701796
HLIrs144701796
Exacrs144701796
Gnomadrs144701796
Varsomers144701796
LitVarrs144701796
Maprs144701796
PheGenIrs144701796
Biobankrs144701796
1000 genomesrs144701796
hgdprs144701796
ensemblrs144701796
geneviewrs144701796
scholarrs144701796
googlers144701796
pharmgkbrs144701796
gwascentralrs144701796
openSNPrs144701796
23andMers144701796
SNPshotrs144701796
SNPdbers144701796
MSV3drs144701796
GWAS Ctlgrs144701796
Max Magnitude3
ClinVar
Risk rs144701796(G;G)
Alt rs144701796(G;G)
Reference Rs144701796(A;A)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene ALDH7A1
CLNDBN not provided
Reversed 0
HGVS NC_000005.9:g.125885668A>T
CLNSRC
CLNACC RCV000494187.1,