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rs794727058

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727058(A;A)
Make rs794727058(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position126555930
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs794727058
ClinGenrs794727058
ebirs794727058
HLIrs794727058
Exacrs794727058
Varsomers794727058
Maprs794727058
PheGenIrs794727058
hapmaprs794727058
1000 genomesrs794727058
hgdprs794727058
ensemblrs794727058
gopubmedrs794727058
geneviewrs794727058
scholarrs794727058
googlers794727058
pharmgkbrs794727058
gwascentralrs794727058
openSNPrs794727058
23andMers794727058
23andMe allrs794727058
SNP Nexus

SNPshotrs794727058
SNPdbers794727058
MSV3drs794727058
GWAS Ctlgrs794727058
Max Magnitude0
ClinVar
Risk rs794727058(A;A)
Alt rs794727058(A;A)
Reference Rs794727058(G;G)
Significance Pathogenic
Disease Pyridoxine-dependent epilepsy
Variation info
Gene ALDH7A1
CLNDBN Pyridoxine-dependent epilepsy
Reversed 1
HGVS NC_000005.9:g.125891622C>T
CLNSRC
CLNACC RCV000174294.1,