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rs387906574

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906574(-;-)
Make rs387906574(-;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position126544988
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs387906574
ebirs387906574
HLIrs387906574
Exacrs387906574
Varsomers387906574
Maprs387906574
PheGenIrs387906574
hapmaprs387906574
1000 genomesrs387906574
hgdprs387906574
ensemblrs387906574
gopubmedrs387906574
geneviewrs387906574
scholarrs387906574
googlers387906574
pharmgkbrs387906574
gwascentralrs387906574
openSNPrs387906574
23andMers387906574
23andMe allrs387906574
SNP Nexus

SNPshotrs387906574
SNPdbers387906574
MSV3drs387906574
GWAS Ctlgrs387906574
Max Magnitude0
ClinVar
Risk rs387906574(;)
Alt rs387906574(;)
Reference rs387906574(G;G)
Significance Pathogenic
Disease Pyridoxine-dependent epilepsy
Variation info
Gene ALDH7A1
CLNDBN Pyridoxine-dependent epilepsy
Reversed 1
HGVS NC_000005.9:g.125880680delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000019615.27,