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rs121912592

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912592(C;T)
Make rs121912592(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position210600636
GeneCPS1
is asnp
is mentioned by
dbSNPrs121912592
ebirs121912592
HLIrs121912592
Exacrs121912592
Varsomers121912592
Maprs121912592
PheGenIrs121912592
hapmaprs121912592
1000 genomesrs121912592
hgdprs121912592
ensemblrs121912592
gopubmedrs121912592
geneviewrs121912592
scholarrs121912592
googlers121912592
pharmgkbrs121912592
gwascentralrs121912592
openSNPrs121912592
23andMers121912592
23andMe allrs121912592
SNP Nexus

SNPshotrs121912592
SNPdbers121912592
MSV3drs121912592
GWAS Ctlgrs121912592
Max Magnitude0
OMIM608307
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912592(A;A)
Alt rs121912592(A;A)
Reference rs121912592(C;C)
Significance Pathogenic
Disease Congenital hyperammonemia
Variation info
Gene CPS1
CLNDBN Congenital hyperammonemia, type I
Reversed 0
HGVS NC_000002.11:g.211465360C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002520.2,