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rs148865119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs148865119(A;A)
Make rs148865119(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position43072048
GeneCBS
is asnp
is mentioned by
dbSNPrs148865119
dbSNP (old)rs148865119
ClinGenrs148865119
ebirs148865119
HLIrs148865119
Exacrs148865119
Gnomadrs148865119
Varsomers148865119
Maprs148865119
PheGenIrs148865119
Biobankrs148865119
1000 genomesrs148865119
hgdprs148865119
ensemblrs148865119
gopubmedrs148865119
geneviewrs148865119
scholarrs148865119
googlers148865119
pharmgkbrs148865119
gwascentralrs148865119
openSNPrs148865119
23andMers148865119
23andMe allrs148865119
SNP Nexus

SNPshotrs148865119
SNPdbers148865119
MSV3drs148865119
GWAS Ctlgrs148865119
Max Magnitude0
ClinVar
Risk rs148865119(A;A) rs148865119(C;C)
Alt rs148865119(A;A) rs148865119(C;C)
Reference Rs148865119(G;G)
Significance Pathogenic
Disease not provided Thoracic aortic aneurysm and aortic dissection Homocystinuria due to CBS deficiency
Variation info
Gene CBSL CBS
CLNDBN not provided Thoracic aortic aneurysm and aortic dissection Homocystinuria due to CBS deficiency
Reversed 0
HGVS NC_000021.8:g.44492158G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000200523.2, RCV000242293.1, RCV000410155.1,