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rs1060502949

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502949(C;C)
Make rs1060502949(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position126592730
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs1060502949
dbSNP (old)rs1060502949
ClinGenrs1060502949
ebirs1060502949
HLIrs1060502949
Exacrs1060502949
Gnomadrs1060502949
Varsomers1060502949
LitVarrs1060502949
Maprs1060502949
PheGenIrs1060502949
Biobankrs1060502949
1000 genomesrs1060502949
hgdprs1060502949
ensemblrs1060502949
gopubmedrs1060502949
geneviewrs1060502949
scholarrs1060502949
googlers1060502949
pharmgkbrs1060502949
gwascentralrs1060502949
openSNPrs1060502949
23andMers1060502949
23andMe allrs1060502949
SNPshotrs1060502949
SNPdbers1060502949
MSV3drs1060502949
GWAS Ctlgrs1060502949
Max Magnitude0
ClinVar
Risk rs1060502949(C;C)
Alt rs1060502949(C;C)
Reference Rs1060502949(G;G)
Significance Probable-Pathogenic
Disease Pyridoxine-dependent epilepsy
Variation info
Gene ALDH7A1
CLNDBN Pyridoxine-dependent epilepsy
Reversed 1
HGVS NC_000005.9:g.125928422C>G
CLNSRC
CLNACC RCV000468096.1,