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rs121912593

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912593(C;T)
Make rs121912593(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position210573301
GeneCPS1
is asnp
is mentioned by
dbSNPrs121912593
ebirs121912593
HLIrs121912593
Exacrs121912593
Varsomers121912593
Maprs121912593
PheGenIrs121912593
hapmaprs121912593
1000 genomesrs121912593
hgdprs121912593
ensemblrs121912593
gopubmedrs121912593
geneviewrs121912593
scholarrs121912593
googlers121912593
pharmgkbrs121912593
gwascentralrs121912593
openSNPrs121912593
23andMers121912593
23andMe allrs121912593
SNP Nexus

SNPshotrs121912593
SNPdbers121912593
MSV3drs121912593
GWAS Ctlgrs121912593
Max Magnitude0
OMIM608307
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912593(T;T)
Alt rs121912593(T;T)
Reference rs121912593(C;C)
Significance Pathogenic
Disease Congenital hyperammonemia
Variation info
Gene CPS1
CLNDBN Congenital hyperammonemia, type I
Reversed 0
HGVS NC_000002.11:g.211438025C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002521.2,