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rs199804679

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(A;G) 4.4 Hereditary hemorrhagic telangiectasia, type 5
(C;T) 4.3 Hereditary hemorrhagic telangiectasia
(G;G) 0 common in clinvar


Make rs199804679(A;A)
ReferenceGRCh38 38.1/142
Chromosome10
Position47322922
GeneGDF2
is asnp
is mentioned by
dbSNPrs199804679
dbSNP (classic)rs199804679
ClinGenrs199804679
ebirs199804679
HLIrs199804679
Exacrs199804679
Gnomadrs199804679
Varsomers199804679
LitVarrs199804679
Maprs199804679
PheGenIrs199804679
Biobankrs199804679
1000 genomesrs199804679
hgdprs199804679
ensemblrs199804679
geneviewrs199804679
scholarrs199804679
googlers199804679
pharmgkbrs199804679
gwascentralrs199804679
openSNPrs199804679
23andMers199804679
SNPshotrs199804679
SNPdbers199804679
MSV3drs199804679
GWAS Ctlgrs199804679
Max Magnitude4.4

c.254C>T (p.Pro85Leu)

ClinVar
Risk rs199804679(A;A)
Alt rs199804679(A;A)
Reference Rs199804679(G;G)
Significance Pathogenic
Disease Telangiectasia
Variation info
Gene GDF2
CLNDBN Telangiectasia, hereditary hemorrhagic, type 5
Reversed 0
HGVS NC_000010.10:g.48416440G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000074344.2,