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rs118203967

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118203967(A;C)
Make rs118203967(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position78304842
GenePSAT1
is asnp
is mentioned by
dbSNPrs118203967
ebirs118203967
HLIrs118203967
Exacrs118203967
Varsomers118203967
Maprs118203967
PheGenIrs118203967
hapmaprs118203967
1000 genomesrs118203967
hgdprs118203967
ensemblrs118203967
gopubmedrs118203967
geneviewrs118203967
scholarrs118203967
googlers118203967
pharmgkbrs118203967
gwascentralrs118203967
openSNPrs118203967
23andMers118203967
23andMe allrs118203967
SNP Nexus

SNPshotrs118203967
SNPdbers118203967
MSV3drs118203967
GWAS Ctlgrs118203967
Max Magnitude0
OMIM610936
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118203967(C;C)
Alt rs118203967(C;C)
Reference rs118203967(A;A)
Significance Pathogenic
Disease Phosphoserine aminotransferase deficiency
Variation info
Gene PSAT1
CLNDBN Phosphoserine aminotransferase deficiency
Reversed 0
HGVS NC_000009.11:g.80919758A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001137.4,