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rs121912595

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912595(A;A)
Make rs121912595(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position210640045
GeneCPS1
is asnp
is mentioned by
dbSNPrs121912595
ebirs121912595
HLIrs121912595
Exacrs121912595
Varsomers121912595
Maprs121912595
PheGenIrs121912595
hapmaprs121912595
1000 genomesrs121912595
hgdprs121912595
ensemblrs121912595
gopubmedrs121912595
geneviewrs121912595
scholarrs121912595
googlers121912595
pharmgkbrs121912595
gwascentralrs121912595
openSNPrs121912595
23andMers121912595
23andMe allrs121912595
SNP Nexus

SNPshotrs121912595
SNPdbers121912595
MSV3drs121912595
GWAS Ctlgrs121912595
Max Magnitude0
OMIM608307
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912595(A,T;A,T)
Alt rs121912595(A,T;A,T)
Reference rs121912595(G;G)
Significance Pathogenic
Disease Congenital hyperammonemia
Variation info
Gene CPS1
CLNDBN Congenital hyperammonemia, type I
Reversed 0
HGVS NC_000002.11:g.211504769G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002526.2,