rs199804679

Orientation

minus

Stabilized

plus

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)

Reference

GRCh38 38.1/142

Chromosome

10

Position

47322922

Gene

GDF2

is a	snp
is	mentioned by
dbSNP	rs199804679
dbSNP (classic)	rs199804679
ClinGen	rs199804679
ebi	rs199804679
HLI	rs199804679
Exac	rs199804679
Gnomad	rs199804679
Varsome	rs199804679
LitVar	rs199804679
Map	rs199804679
PheGenI	rs199804679
Biobank	rs199804679
1000 genomes	rs199804679
hgdp	rs199804679
ensembl	rs199804679
geneview	rs199804679
scholar	rs199804679
google	rs199804679
pharmgkb	rs199804679
gwascentral	rs199804679
openSNP	rs199804679
23andMe	rs199804679
SNPshot	rs199804679
SNPdbe	rs199804679
MSV3d	rs199804679
GWAS Ctlg	rs199804679

Max Magnitude

4.4

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,