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rs864622666

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGCC;GGCC) 0 common in clinvar
Make rs864622666(-;-)
Make rs864622666(-;GGCC)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127825741
GeneENG
is asnp
is mentioned by
dbSNPrs864622666
ClinGenrs864622666
ebirs864622666
HLIrs864622666
Exacrs864622666
Varsomers864622666
Maprs864622666
PheGenIrs864622666
hapmaprs864622666
1000 genomesrs864622666
hgdprs864622666
ensemblrs864622666
gopubmedrs864622666
geneviewrs864622666
scholarrs864622666
googlers864622666
pharmgkbrs864622666
gwascentralrs864622666
openSNPrs864622666
23andMers864622666
23andMe allrs864622666
SNP Nexus

SNPshotrs864622666
SNPdbers864622666
MSV3drs864622666
GWAS Ctlgrs864622666
Max Magnitude0
ClinVar
Risk rs864622666(-;-)
Alt rs864622666(-;-)
Reference Rs864622666(GGCC;GGCC)
Significance Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG
CLNDBN Osler hemorrhagic telangiectasia syndrome
Reversed 1
HGVS NC_000009.11:g.130588020_130588023delGGCC
CLNSRC
CLNACC RCV000205417.1,