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rs397514767

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 7 inherited CD59 deficiency
(A;G) 4 unaffected carrier of an inherited CD59 deficiency allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position33710247
GeneCD59
is asnp
is mentioned by
dbSNPrs397514767
ebirs397514767
HLIrs397514767
Exacrs397514767
Varsomers397514767
Maprs397514767
PheGenIrs397514767
hapmaprs397514767
1000 genomesrs397514767
hgdprs397514767
ensemblrs397514767
gopubmedrs397514767
geneviewrs397514767
scholarrs397514767
googlers397514767
pharmgkbrs397514767
gwascentralrs397514767
openSNPrs397514767
23andMers397514767
23andMe allrs397514767
SNP Nexus

SNPshotrs397514767
SNPdbers397514767
MSV3drs397514767
GWAS Ctlgrs397514767
Max Magnitude7

rs397514767 is a SNP in the CD59 gene on chromosome 11.

A G>A change, when present in two copies, leads to an inherited CD59 deficiency including hemolytic anemia and immune-mediated polyneuropathy.[PMID 23149847]

See also OMIM 107271.0002

ClinVar
Risk rs397514767(A;A)
Alt rs397514767(A;A)
Reference rs397514767(G;G)
Significance Pathogenic
Disease Cd59 deficiency
Variation info
Gene CD59
CLNDBN Cd59 deficiency
Reversed 1
HGVS NC_000011.9:g.33731793C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054836.29,