rs2301612

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	0	benign polymorphism
(G;G)	0	benign polymorphism

Reference

GRCh38 38.1/141

Chromosome

9

Position

133436862

Gene

ADAMTS13

is a	snp
is	mentioned by
dbSNP	rs2301612
dbSNP (classic)	rs2301612
ClinGen	rs2301612
ebi	rs2301612
HLI	rs2301612
Exac	rs2301612
Gnomad	rs2301612
Varsome	rs2301612
LitVar	rs2301612
Map	rs2301612
PheGenI	rs2301612
Biobank	rs2301612
1000 genomes	rs2301612
hgdp	rs2301612
ensembl	rs2301612
geneview	rs2301612
scholar	rs2301612
google	rs2301612
pharmgkb	rs2301612
gwascentral	rs2301612
openSNP	rs2301612
23andMe	rs2301612
SNPshot	rs2301612
SNPdbe	rs2301612
MSV3d	rs2301612
GWAS Ctlg	rs2301612

GMAF

0.275

Max Magnitude

0

?	(C;C) (C;G) (G;G)	28

OMIM	604134
Desc	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
Variant	0015
Related	also

ClinVar
Risk	Rs2301612(G;G)
Alt	Rs2301612(G;G)
Reference	Rs2301612(C;C)
Significance	Pathogenic
Disease	Upshaw-Schulman syndrome not specified
Variation	info
Gene	ADAMTS13
CLNDBN	Upshaw-Schulman syndrome not specified
Reversed	0
HGVS	NC_000009.11:g.136301982C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006169.4, RCV000241706.1, RCV000275338.1,

[PMID 26745484] ADAMTS genes and the risk of cerebral aneurysm.