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rs121912708

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912708(C;T)
Make rs121912708(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position126583997
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs121912708
ebirs121912708
HLIrs121912708
Exacrs121912708
Varsomers121912708
Maprs121912708
PheGenIrs121912708
hapmaprs121912708
1000 genomesrs121912708
hgdprs121912708
ensemblrs121912708
gopubmedrs121912708
geneviewrs121912708
scholarrs121912708
googlers121912708
pharmgkbrs121912708
gwascentralrs121912708
openSNPrs121912708
23andMers121912708
23andMe allrs121912708
SNP Nexus

SNPshotrs121912708
SNPdbers121912708
MSV3drs121912708
GWAS Ctlgrs121912708
Max Magnitude0
OMIM107323
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912708(G,T;G,T)
Alt rs121912708(G,T;G,T)
Reference rs121912708(C;C)
Significance Pathogenic
Disease Pyridoxine-dependent epilepsy
Variation info
Gene ALDH7A1
CLNDBN Pyridoxine-dependent epilepsy
Reversed 1
HGVS NC_000005.9:g.125919689G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019611.23,