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rs121912709

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912709(C;T)
Make rs121912709(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position126577133
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs121912709
ebirs121912709
HLIrs121912709
Exacrs121912709
Varsomers121912709
Maprs121912709
PheGenIrs121912709
hapmaprs121912709
1000 genomesrs121912709
hgdprs121912709
ensemblrs121912709
gopubmedrs121912709
geneviewrs121912709
scholarrs121912709
googlers121912709
pharmgkbrs121912709
gwascentralrs121912709
openSNPrs121912709
23andMers121912709
23andMe allrs121912709
SNP Nexus

SNPshotrs121912709
SNPdbers121912709
MSV3drs121912709
GWAS Ctlgrs121912709
Max Magnitude0
OMIM107323
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912709(T;T)
Alt rs121912709(T;T)
Reference rs121912709(C;C)
Significance Pathogenic
Disease Pyridoxine-dependent epilepsy
Variation info
Gene ALDH7A1
CLNDBN Pyridoxine-dependent epilepsy
Reversed 1
HGVS NC_000005.9:g.125912825G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019614.27,