rs281875305

Orientation

plus

Stabilized

plus

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

Make rs281875305(A;A)

Make rs281875305(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

133437836

Gene

ADAMTS13

is a	snp
is	mentioned by
dbSNP	rs281875305
dbSNP (classic)	rs281875305
ClinGen	rs281875305
ebi	rs281875305
HLI	rs281875305
Exac	rs281875305
Gnomad	rs281875305
Varsome	rs281875305
LitVar	rs281875305
Map	rs281875305
PheGenI	rs281875305
Biobank	rs281875305
1000 genomes	rs281875305
hgdp	rs281875305
ensembl	rs281875305
geneview	rs281875305
scholar	rs281875305
google	rs281875305
pharmgkb	rs281875305
gwascentral	rs281875305
openSNP	rs281875305
23andMe	rs281875305
SNPshot	rs281875305
SNPdbe	rs281875305
MSV3d	rs281875305
GWAS Ctlg	rs281875305

Max Magnitude

0

ClinVar
Risk	rs281875305(A;A)
Alt	rs281875305(A;A)
Reference	Rs281875305(G;G)
Significance	Pathogenic
Disease	Upshaw-Schulman syndrome not provided
Variation	info
Gene	ADAMTS13
CLNDBN	Upshaw-Schulman syndrome not provided
Reversed	0
HGVS	NC_000009.11:g.136302956G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000006169.4, RCV000059755.1,

[PMID 12181489] Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity.