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rs145092287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145092287(C;C)
Make rs145092287(C;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position41010160
GeneCTPS1
is asnp
is mentioned by
dbSNPrs145092287
ebirs145092287
HLIrs145092287
Exacrs145092287
Varsomers145092287
Maprs145092287
PheGenIrs145092287
hapmaprs145092287
1000 genomesrs145092287
hgdprs145092287
ensemblrs145092287
gopubmedrs145092287
geneviewrs145092287
scholarrs145092287
googlers145092287
pharmgkbrs145092287
gwascentralrs145092287
openSNPrs145092287
23andMers145092287
23andMe allrs145092287
SNP Nexus

SNPshotrs145092287
SNPdbers145092287
MSV3drs145092287
GWAS Ctlgrs145092287
Max Magnitude0
ClinVar
Risk rs145092287(C;C)
Alt rs145092287(C;C)
Reference rs145092287(G;G)
Significance Pathogenic
Disease Immunodeficiency 24
Variation info
Gene CTPS1
CLNDBN Immunodeficiency 24
Reversed 0
HGVS NC_000001.10:g.41475832G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000128633.3,