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rs2298758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs2298758(A;A)
Make rs2298758(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position43065417
GeneCBS
is asnp
is mentioned by
dbSNPrs2298758
ClinGenrs2298758
ebirs2298758
HLIrs2298758
Exacrs2298758
Varsomers2298758
Maprs2298758
PheGenIrs2298758
hapmaprs2298758
1000 genomesrs2298758
hgdprs2298758
ensemblrs2298758
gopubmedrs2298758
geneviewrs2298758
scholarrs2298758
googlers2298758
pharmgkbrs2298758
gwascentralrs2298758
openSNPrs2298758
23andMers2298758
23andMe allrs2298758
SNP Nexus

SNPshotrs2298758
SNPdbers2298758
MSV3drs2298758
GWAS Ctlgrs2298758
GMAF0.004132
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Being investigated in Ehlers-Danlos syndrome


ClinVar
Risk rs2298758(A;A) rs2298758(C;C)
Alt rs2298758(A;A) rs2298758(C;C)
Reference Rs2298758(G;G)
Significance Non-pathogenic
Disease not specified Thoracic aortic aneurysm and aortic dissection
Variation info
Gene CBSL CBS
CLNDBN not specified Thoracic aortic aneurysm and aortic dissection
Reversed 0
HGVS NC_000021.8:g.44485527G>A; NC_000021.8:g.44485527G>C
CLNSRC ClinVar GeneDx
CLNACC RCV000124148.3, RCV000254497.1, RCV000196277.1,