rs121908477

Orientation

plus

Stabilized

plus

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

Make rs121908477(C;C)

Make rs121908477(C;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

133428750

Gene

ADAMTS13

is a	snp
is	mentioned by
dbSNP	rs121908477
dbSNP (classic)	rs121908477
ClinGen	rs121908477
ebi	rs121908477
HLI	rs121908477
Exac	rs121908477
Gnomad	rs121908477
Varsome	rs121908477
LitVar	rs121908477
Map	rs121908477
PheGenI	rs121908477
Biobank	rs121908477
1000 genomes	rs121908477
hgdp	rs121908477
ensembl	rs121908477
geneview	rs121908477
scholar	rs121908477
google	rs121908477
pharmgkb	rs121908477
gwascentral	rs121908477
openSNP	rs121908477
23andMe	rs121908477
SNPshot	rs121908477
SNPdbe	rs121908477
MSV3d	rs121908477
GWAS Ctlg	rs121908477

Max Magnitude

0

OMIM	604134
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121908477(C;C)
Alt	rs121908477(C;C)
Reference	Rs121908477(G;G)
Significance	Pathogenic
Disease	Upshaw-Schulman syndrome
Variation	info
Gene	ADAMTS13
CLNDBN	Upshaw-Schulman syndrome
Reversed	0
HGVS	NC_000009.11:g.136293870G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006168.4,