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rs121912711

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912711(A;T)
Make rs121912711(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position126561094
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs121912711
ebirs121912711
HLIrs121912711
Exacrs121912711
Varsomers121912711
Maprs121912711
PheGenIrs121912711
hapmaprs121912711
1000 genomesrs121912711
hgdprs121912711
ensemblrs121912711
gopubmedrs121912711
geneviewrs121912711
scholarrs121912711
googlers121912711
pharmgkbrs121912711
gwascentralrs121912711
openSNPrs121912711
23andMers121912711
23andMe allrs121912711
SNP Nexus

SNPshotrs121912711
SNPdbers121912711
MSV3drs121912711
GWAS Ctlgrs121912711
Max Magnitude0
OMIM107323
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912711(T;T)
Alt rs121912711(T;T)
Reference rs121912711(A;A)
Significance Pathogenic
Disease Pyridoxine-dependent epilepsy
Variation info
Gene ALDH7A1
CLNDBN Pyridoxine-dependent epilepsy
Reversed 1
HGVS NC_000005.9:g.125896786T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019617.27,