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rs11575933

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs11575933(C;T)
Make rs11575933(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position133436943
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs11575933
ebirs11575933
HLIrs11575933
Exacrs11575933
Varsomers11575933
Maprs11575933
PheGenIrs11575933
hapmaprs11575933
1000 genomesrs11575933
hgdprs11575933
ensemblrs11575933
gopubmedrs11575933
geneviewrs11575933
scholarrs11575933
googlers11575933
pharmgkbrs11575933
gwascentralrs11575933
openSNPrs11575933
23andMers11575933
23andMe allrs11575933
SNP Nexus

SNPshotrs11575933
SNPdbers11575933
MSV3drs11575933
GWAS Ctlgrs11575933
GMAF0.009183
Max Magnitude0
OMIM604134
Desc
Variant0016
Relatedalso
ClinVar
Risk rs11575933(T;T)
Alt rs11575933(T;T)
Reference rs11575933(C;C)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136302063C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006170.4,


GET Evidence
ADAMTS13-P475S
aa_change Pro475Ser
aa_change_short P475S
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.000652133
summary