Have questions? Visit https://www.reddit.com/r/SNPedia

rs777829351

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs777829351(C;C)
Make rs777829351(C;T)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position126575451
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs777829351
dbSNP (classic)rs777829351
ClinGenrs777829351
ebirs777829351
HLIrs777829351
Exacrs777829351
Gnomadrs777829351
Varsomers777829351
LitVarrs777829351
Maprs777829351
PheGenIrs777829351
Biobankrs777829351
1000 genomesrs777829351
hgdprs777829351
ensemblrs777829351
geneviewrs777829351
scholarrs777829351
googlers777829351
pharmgkbrs777829351
gwascentralrs777829351
openSNPrs777829351
23andMers777829351
SNPshotrs777829351
SNPdbers777829351
MSV3drs777829351
GWAS Ctlgrs777829351
Max Magnitude0
ClinVar
Risk rs777829351(C;C)
Alt rs777829351(C;C)
Reference Rs777829351(T;T)
Significance Probable-Pathogenic
Disease not provided Pyridoxine-dependent epilepsy
Variation info
Gene ALDH7A1
CLNDBN not provided Pyridoxine-dependent epilepsy
Reversed 0
HGVS NC_000005.9:g.125911143T>C
CLNSRC
CLNACC RCV000186729.2, RCV000466667.1,