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rs121912710

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912710(G;G)
Make rs121912710(G;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position126552114
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs121912710
ebirs121912710
HLIrs121912710
Exacrs121912710
Varsomers121912710
Maprs121912710
PheGenIrs121912710
hapmaprs121912710
1000 genomesrs121912710
hgdprs121912710
ensemblrs121912710
gopubmedrs121912710
geneviewrs121912710
scholarrs121912710
googlers121912710
pharmgkbrs121912710
gwascentralrs121912710
openSNPrs121912710
23andMers121912710
23andMe allrs121912710
SNP Nexus

SNPshotrs121912710
SNPdbers121912710
MSV3drs121912710
GWAS Ctlgrs121912710
Max Magnitude0
OMIM107323
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912710(C,G;C,G)
Alt rs121912710(C,G;C,G)
Reference rs121912710(T;T)
Significance Pathogenic
Disease Pyridoxine-dependent epilepsy
Variation info
Gene ALDH7A1
CLNDBN Pyridoxine-dependent epilepsy
Reversed 1
HGVS NC_000005.9:g.125887806A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019616.27,