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rs587777747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777747(-;-)
Make rs587777747(-;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position78300648
GenePSAT1
is asnp
is mentioned by
dbSNPrs587777747
ebirs587777747
HLIrs587777747
Exacrs587777747
Varsomers587777747
Maprs587777747
PheGenIrs587777747
hapmaprs587777747
1000 genomesrs587777747
hgdprs587777747
ensemblrs587777747
gopubmedrs587777747
geneviewrs587777747
scholarrs587777747
googlers587777747
pharmgkbrs587777747
gwascentralrs587777747
openSNPrs587777747
23andMers587777747
23andMe allrs587777747
SNP Nexus

SNPshotrs587777747
SNPdbers587777747
MSV3drs587777747
GWAS Ctlgrs587777747
Max Magnitude0
ClinVar
Risk rs587777747(;)
Alt rs587777747(;)
Reference rs587777747(G;G)
Significance Pathogenic
Disease Phosphoserine aminotransferase deficiency
Variation info
Gene PSAT1
CLNDBN Phosphoserine aminotransferase deficiency
Reversed 0
HGVS NC_000009.11:g.80915564delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000001136.4,