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rs1047883

From SNPedia

Orientationplus
Stabilizedplus
Make rs1047883(A;A)
Make rs1047883(A;G)
Make rs1047883(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position210591913
GeneCPS1
is asnp
is mentioned by
dbSNPrs1047883
ebirs1047883
HLIrs1047883
Exacrs1047883
Varsomers1047883
Maprs1047883
PheGenIrs1047883
hapmaprs1047883
1000 genomesrs1047883
hgdprs1047883
ensemblrs1047883
gopubmedrs1047883
geneviewrs1047883
scholarrs1047883
googlers1047883
pharmgkbrs1047883
gwascentralrs1047883
openSNPrs1047883
23andMers1047883
23andMe allrs1047883
SNP Nexus

SNPshotrs1047883
SNPdbers1047883
MSV3drs1047883
GWAS Ctlgrs1047883
GMAF0.4362
Max Magnitude
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene CPS1
allele T
frequency
sift AFFECT FUNCTION
HuRef 1103658353580
Disease Association Defects in CPS1 are the cause of CPS1 deficiency (MIM:237300); an autosomal recessive metabolic disorder that cause a type of hyperammonemia. Clinical symptoms are vomiting in infancy, protein intolerance, intermittent ataxia, seizures, lethargy, and mental retardation.



Neighborrs28940283
Distance20


GET Evidence
CPS1-T344A
aa_change Thr344Ala
aa_change_short T344A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.596951
summary



ClinVar
Risk rs1047883(G;G)
Alt rs1047883(G;G)
Reference rs1047883(A;A)
Significance Other
Disease not specified
Variation info
Gene CPS1
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.211456637A>G
CLNSRC ClinVar GeneDx University of Chicago
CLNACC RCV000116829.3,