rs1054480

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1054480(C;T)

Make rs1054480(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

179113974

Gene

ADAMTS2

is a	snp
is	mentioned by
dbSNP	rs1054480
dbSNP (classic)	rs1054480
ClinGen	rs1054480
ebi	rs1054480
HLI	rs1054480
Exac	rs1054480
Gnomad	rs1054480
Varsome	rs1054480
LitVar	rs1054480
Map	rs1054480
PheGenI	rs1054480
Biobank	rs1054480
1000 genomes	rs1054480
hgdp	rs1054480
ensembl	rs1054480
geneview	rs1054480
scholar	rs1054480
google	rs1054480
pharmgkb	rs1054480
gwascentral	rs1054480
openSNP	rs1054480
23andMe	rs1054480
SNPshot	rs1054480
SNPdbe	rs1054480
MSV3d	rs1054480
GWAS Ctlg	rs1054480

GMAF

0.2521

Max Magnitude

0

?

(C;C) (C;T) (T;T)

28

[PMID 23491141] Polymorphic variation within the ADAMTS2, ADAMTS14, ADAMTS5, ADAM12 and TIMP2 genes and the risk of Achilles tendon pathology: A genetic association study

ClinVar
Risk	rs1054480(T;T)
Alt	rs1054480(T;T)
Reference	Rs1054480(C;C)
Significance	Non-pathogenic
Disease	Ehlers-Danlos syndrome not specified
Variation	info
Gene	ADAMTS2
CLNDBN	Ehlers-Danlos syndrome, type vii, autosomal recessive not specified
Reversed	1
HGVS	NC_000005.9:g.178540975G>A
CLNSRC
CLNACC	RCV000299782.1, RCV000422671.1,