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rs28939068

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5
(A;T) 5
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome20
Position23635330
GeneCST3
is asnp
is mentioned by
dbSNPrs28939068
ebirs28939068
HLIrs28939068
Exacrs28939068
Varsomers28939068
Maprs28939068
PheGenIrs28939068
hapmaprs28939068
1000 genomesrs28939068
hgdprs28939068
ensemblrs28939068
gopubmedrs28939068
geneviewrs28939068
scholarrs28939068
googlers28939068
pharmgkbrs28939068
gwascentralrs28939068
openSNPrs28939068
23andMers28939068
23andMe allrs28939068
SNP Nexus

SNPshotrs28939068
SNPdbers28939068
MSV3drs28939068
GWAS Ctlgrs28939068
Max Magnitude5
OMIM604312
DescAMYLOIDOSIS, CEREBROARTERIAL, ICELANDIC TYPE
Variant0001
Relatedalso

Cystatin C L68Q founder mutation for Icelandic hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disease with high penetrance, manifest by brain hemorrhages in young normotensive adults. This snp has now been studied extensively.

full text available from plos


ClinVar
Risk rs28939068(A;A)
Alt rs28939068(A;A)
Reference rs28939068(T;T)
Significance Pathogenic
Disease Hereditary cerebral amyloid angiopathy
Variation info
Gene CST3
CLNDBN Hereditary cerebral amyloid angiopathy, Icelandic type
Reversed 1
HGVS NC_000020.10:g.23615967A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005988.2,