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rs1590

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1590(A;C)
Make rs1590(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position99153883
GeneTGFBR1
is asnp
is mentioned by
dbSNPrs1590
dbSNP (classic)rs1590
ClinGenrs1590
ebirs1590
HLIrs1590
Exacrs1590
Gnomadrs1590
Varsomers1590
LitVarrs1590
Maprs1590
PheGenIrs1590
Biobankrs1590
1000 genomesrs1590
hgdprs1590
ensemblrs1590
geneviewrs1590
scholarrs1590
googlers1590
pharmgkbrs1590
gwascentralrs1590
openSNPrs1590
23andMers1590
SNPshotrs1590
SNPdbers1590
MSV3drs1590
GWAS Ctlgrs1590
GMAF0.3407
Max Magnitude0
? (A;A) (A;C) (C;C) 28


10.1126 appears relevant to colon cancer rs334348, rs334349 and rs1590 (in total linkage disequilibrium with each other) and a fourth marker, rs7871490


[PMID 18703712OA-icon.png] Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer.


[PMID 19509225OA-icon.png] Infrequent detection of germline allele-specific expression of TGFBR1 in lymphoblasts and tissues of colon cancer patients.


[PMID 20500843OA-icon.png] Constitutively decreased TGFBR1 allelic expression is a common finding in colorectal cancer and is associated with three TGFBR1 SNPs.


ClinVar
Risk rs1590(C;C)
Alt rs1590(C;C)
Reference Rs1590(A;A)
Significance Non-pathogenic
Disease Loeys-Dietz syndrome Loeys-Dietz syndrome 1 Thoracic aortic aneurysm and aortic dissection
Variation info
Gene TGFBR1
CLNDBN Loeys-Dietz syndrome Loeys-Dietz syndrome 1 Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000009.11:g.101916165T>G
CLNSRC
CLNACC RCV000291169.1, RCV000327431.1, RCV000381609.1,