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rs28940283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28940283(A;G)
Make rs28940283(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position210591893
GeneCPS1
is asnp
is mentioned by
dbSNPrs28940283
ebirs28940283
HLIrs28940283
Exacrs28940283
Varsomers28940283
Maprs28940283
PheGenIrs28940283
hapmaprs28940283
1000 genomesrs28940283
hgdprs28940283
ensemblrs28940283
gopubmedrs28940283
geneviewrs28940283
scholarrs28940283
googlers28940283
pharmgkbrs28940283
gwascentralrs28940283
openSNPrs28940283
23andMers28940283
23andMe allrs28940283
SNP Nexus

SNPshotrs28940283
SNPdbers28940283
MSV3drs28940283
GWAS Ctlgrs28940283
Max Magnitude0
OMIM608307
DescCARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
Variant0004
Relatedalso
Neighborrs1047883
Distance20


ClinVar
Risk rs28940283(G;G)
Alt rs28940283(G;G)
Reference rs28940283(A;A)
Significance Pathogenic
Disease Congenital hyperammonemia
Variation info
Gene CPS1
CLNDBN Congenital hyperammonemia, type I
Reversed 0
HGVS NC_000002.11:g.211456617A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002522.3,