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rs2301612

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2301612(C;G)
Make rs2301612(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133436862
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs2301612
ebirs2301612
HLIrs2301612
Exacrs2301612
Varsomers2301612
Maprs2301612
PheGenIrs2301612
hapmaprs2301612
1000 genomesrs2301612
hgdprs2301612
ensemblrs2301612
gopubmedrs2301612
geneviewrs2301612
scholarrs2301612
googlers2301612
pharmgkbrs2301612
gwascentralrs2301612
openSNPrs2301612
23andMers2301612
23andMe allrs2301612
SNP Nexus

SNPshotrs2301612
SNPdbers2301612
MSV3drs2301612
GWAS Ctlgrs2301612
GMAF0.275
Max Magnitude0
? (C;C) (C;G) (G;G) 28
OMIM604134
DescTHROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
Variant0015
Relatedalso


ClinVar
Risk rs2301612(G;G)
Alt rs2301612(G;G)
Reference rs2301612(C;C)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136301982C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006169.4,



GET Evidence
ADAMTS13-Q448E
aa_change Gln448Glu
aa_change_short Q448E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.296898
summary



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