rs35129734

Orientation

minus

Stabilized

plus

Geno	Mag	Summary
(A;G)	4.4	Hereditary hemorrhagic telangiectasia, type 5
(G;G)	0	common in clinvar

Make rs35129734(A;A)

Reference

GRCh38 38.1/142

Chromosome

10

Position

47325491

Gene

GDF2

is a	snp
is	mentioned by
dbSNP	rs35129734
dbSNP (classic)	rs35129734
ClinGen	rs35129734
ebi	rs35129734
HLI	rs35129734
Exac	rs35129734
Gnomad	rs35129734
Varsome	rs35129734
LitVar	rs35129734
Map	rs35129734
PheGenI	rs35129734
Biobank	rs35129734
1000 genomes	rs35129734
hgdp	rs35129734
ensembl	rs35129734
geneview	rs35129734
scholar	rs35129734
google	rs35129734
pharmgkb	rs35129734
gwascentral	rs35129734
openSNP	rs35129734
23andMe	rs35129734
SNPshot	rs35129734
SNPdbe	rs35129734
MSV3d	rs35129734
GWAS Ctlg	rs35129734

Max Magnitude

4.4

c.997C>T (p.Arg333Trp)

ClinVar
Risk	rs35129734(A;A) rs35129734(T;T)
Alt	rs35129734(A;A) rs35129734(T;T)
Reference	Rs35129734(G;G)
Significance	Pathogenic
Disease	Telangiectasia
Variation	info
Gene	GDF2
CLNDBN	Telangiectasia, hereditary hemorrhagic, type 5
Reversed	0
HGVS	NC_000010.10:g.48413871G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000074346.2,