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rs121912596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912596(C;T)
Make rs121912596(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position210608527
GeneCPS1
is asnp
is mentioned by
dbSNPrs121912596
ebirs121912596
HLIrs121912596
Exacrs121912596
Varsomers121912596
Maprs121912596
PheGenIrs121912596
hapmaprs121912596
1000 genomesrs121912596
hgdprs121912596
ensemblrs121912596
gopubmedrs121912596
geneviewrs121912596
scholarrs121912596
googlers121912596
pharmgkbrs121912596
gwascentralrs121912596
openSNPrs121912596
23andMers121912596
23andMe allrs121912596
SNP Nexus

SNPshotrs121912596
SNPdbers121912596
MSV3drs121912596
GWAS Ctlgrs121912596
Max Magnitude0
OMIM608307
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121912596(T;T)
Alt rs121912596(T;T)
Reference rs121912596(C;C)
Significance Pathogenic
Disease Congenital hyperammonemia
Variation info
Gene CPS1
CLNDBN Congenital hyperammonemia, type I
Reversed 0
HGVS NC_000002.11:g.211473251C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002528.2,