rs121908478

Orientation

plus

Stabilized

plus

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

Make rs121908478(C;T)

Make rs121908478(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

133428696

Gene

ADAMTS13

is a	snp
is	mentioned by
dbSNP	rs121908478
dbSNP (classic)	rs121908478
ClinGen	rs121908478
ebi	rs121908478
HLI	rs121908478
Exac	rs121908478
Gnomad	rs121908478
Varsome	rs121908478
LitVar	rs121908478
Map	rs121908478
PheGenI	rs121908478
Biobank	rs121908478
1000 genomes	rs121908478
hgdp	rs121908478
ensembl	rs121908478
geneview	rs121908478
scholar	rs121908478
google	rs121908478
pharmgkb	rs121908478
gwascentral	rs121908478
openSNP	rs121908478
23andMe	rs121908478
SNPshot	rs121908478
SNPdbe	rs121908478
MSV3d	rs121908478
GWAS Ctlg	rs121908478

Max Magnitude

0

OMIM	604134
Desc
Variant	0020
Related	also

ClinVar
Risk	rs121908478(T;T)
Alt	rs121908478(T;T)
Reference	Rs121908478(C;C)
Significance	Pathogenic
Disease	Upshaw-Schulman syndrome
Variation	info
Gene	ADAMTS13
CLNDBN	Upshaw-Schulman syndrome
Reversed	0
HGVS	NC_000009.11:g.136293816C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006174.4,