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rs121912594

From SNPedia

Orientationplus
Stabilizedplus
Make rs121912594(A;A)
Make rs121912594(A;C)
Make rs121912594(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position210675762
GeneCPS1
is asnp
is mentioned by
dbSNPrs121912594
dbSNP (old)rs121912594
ClinGenrs121912594
ebirs121912594
HLIrs121912594
Exacrs121912594
Gnomadrs121912594
Varsomers121912594
Maprs121912594
PheGenIrs121912594
Biobankrs121912594
1000 genomesrs121912594
hgdprs121912594
ensemblrs121912594
gopubmedrs121912594
geneviewrs121912594
scholarrs121912594
googlers121912594
pharmgkbrs121912594
gwascentralrs121912594
openSNPrs121912594
23andMers121912594
23andMe allrs121912594
SNP Nexus

SNPshotrs121912594
SNPdbers121912594
MSV3drs121912594
GWAS Ctlgrs121912594
Max Magnitude
OMIM608307
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912594(C;C)
Alt rs121912594(C;C)
Reference rs121912594(A;A)
Significance Other
Disease Pulmonary hypertension Venoocclusive disease after bone marrow transplantation
Variation info
Gene CPS1
CLNDBN Pulmonary hypertension, neonatal, susceptibility to Venoocclusive disease after bone marrow transplantation, susceptibility to
Reversed 0
HGVS NC_000002.11:g.211540486A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002524.7, RCV000002525.7,