rs121908469

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs121908469(C;T)

Make rs121908469(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

133424452

Gene

ADAMTS13

is a	snp
is	mentioned by
dbSNP	rs121908469
dbSNP (classic)	rs121908469
ClinGen	rs121908469
ebi	rs121908469
HLI	rs121908469
Exac	rs121908469
Gnomad	rs121908469
Varsome	rs121908469
LitVar	rs121908469
Map	rs121908469
PheGenI	rs121908469
Biobank	rs121908469
1000 genomes	rs121908469
hgdp	rs121908469
ensembl	rs121908469
geneview	rs121908469
scholar	rs121908469
google	rs121908469
pharmgkb	rs121908469
gwascentral	rs121908469
openSNP	rs121908469
23andMe	rs121908469
SNPshot	rs121908469
SNPdbe	rs121908469
MSV3d	rs121908469
GWAS Ctlg	rs121908469

Max Magnitude

0

OMIM	604134
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121908469(T;T)
Alt	rs121908469(T;T)
Reference	Rs121908469(C;C)
Significance	Pathogenic
Disease	Upshaw-Schulman syndrome
Variation	info
Gene	ADAMTS13
CLNDBN	Upshaw-Schulman syndrome
Reversed	0
HGVS	NC_000009.11:g.136289572C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006156.4,