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rs1064794240

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AA) 3 Carrier of a pyridoxine-dependent epilepsy mutation
(AA;AA) 0 common in clinvar


Make rs1064794240(-;-)
Chromosome5
Position126561094
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs1064794240
dbSNP (classic)rs1064794240
ClinGenrs1064794240
ebirs1064794240
HLIrs1064794240
Exacrs1064794240
Gnomadrs1064794240
Varsomers1064794240
LitVarrs1064794240
Maprs1064794240
PheGenIrs1064794240
Biobankrs1064794240
1000 genomesrs1064794240
hgdprs1064794240
ensemblrs1064794240
geneviewrs1064794240
scholarrs1064794240
googlers1064794240
pharmgkbrs1064794240
gwascentralrs1064794240
openSNPrs1064794240
23andMers1064794240
SNPshotrs1064794240
SNPdbers1064794240
MSV3drs1064794240
GWAS Ctlgrs1064794240
Max Magnitude3
ClinVar
Risk rs1064794240(-;-)
Alt rs1064794240(-;-)
Reference Rs1064794240(AA;AA)
Significance Pathogenic
Disease not provided
Variation info
Gene ALDH7A1
CLNDBN not provided
Reversed 1
HGVS NC_000005.9:g.125896786_125896787delTT
CLNSRC
CLNACC RCV000483865.1,