rs137853146

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of an Ehlers-Danlos syndrome type VII mutation

Make rs137853146(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

179272926

Gene

ADAMTS2

is a	snp
is	mentioned by
dbSNP	rs137853146
dbSNP (classic)	rs137853146
ClinGen	rs137853146
ebi	rs137853146
HLI	rs137853146
Exac	rs137853146
Gnomad	rs137853146
Varsome	rs137853146
LitVar	rs137853146
Map	rs137853146
PheGenI	rs137853146
Biobank	rs137853146
1000 genomes	rs137853146
hgdp	rs137853146
ensembl	rs137853146
geneview	rs137853146
scholar	rs137853146
google	rs137853146
pharmgkb	rs137853146
gwascentral	rs137853146
openSNP	rs137853146
23andMe	rs137853146
SNPshot	rs137853146
SNPdbe	rs137853146
MSV3d	rs137853146
GWAS Ctlg	rs137853146

Max Magnitude

3

aka c.673C>T (p.Gln225Ter or Q225X)

OMIM	604539
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137853146(T;T)
Alt	rs137853146(T;T)
Reference	Rs137853146(C;C)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	ADAMTS2
CLNDBN	Ehlers-Danlos syndrome, type vii, autosomal recessive
Reversed	1
HGVS	NC_000005.9:g.178699927G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005837.2,