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rs2277382

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2277382(C;T)
Make rs2277382(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position51912437
GeneACVRL1
is asnp
is mentioned by
dbSNPrs2277382
ebirs2277382
HLIrs2277382
Exacrs2277382
Varsomers2277382
Maprs2277382
PheGenIrs2277382
hapmaprs2277382
1000 genomesrs2277382
hgdprs2277382
ensemblrs2277382
gopubmedrs2277382
geneviewrs2277382
scholarrs2277382
googlers2277382
pharmgkbrs2277382
gwascentralrs2277382
openSNPrs2277382
23andMers2277382
23andMe allrs2277382
SNP Nexus

SNPshotrs2277382
SNPdbers2277382
MSV3drs2277382
GWAS Ctlgrs2277382
GMAF0.07759
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 22896741] TGFβ receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients


ClinVar
Risk rs2277382(T;T)
Alt rs2277382(T;T)
Reference rs2277382(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ACVRL1
CLNDBN not specified
Reversed 0
HGVS NC_000012.11:g.52306221C>T
CLNSRC ClinVar GeneDx
CLNACC RCV000123529.3,