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rs373842615

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 4.3 Hereditary hemorrhagic telangiectasia
(T;T) 0 common in clinvar


Make rs373842615(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position127819662
GeneENG, LOC102723566
is asnp
is mentioned by
dbSNPrs373842615
dbSNP (classic)rs373842615
ClinGenrs373842615
ebirs373842615
HLIrs373842615
Exacrs373842615
Gnomadrs373842615
Varsomers373842615
LitVarrs373842615
Maprs373842615
PheGenIrs373842615
Biobankrs373842615
1000 genomesrs373842615
hgdprs373842615
ensemblrs373842615
geneviewrs373842615
scholarrs373842615
googlers373842615
pharmgkbrs373842615
gwascentralrs373842615
openSNPrs373842615
23andMers373842615
SNPshotrs373842615
SNPdbers373842615
MSV3drs373842615
GWAS Ctlgrs373842615
Max Magnitude4.3
ClinVar
Risk rs373842615(C;C)
Alt rs373842615(C;C)
Reference Rs373842615(T;T)
Significance Pathogenic
Disease Haemorrhagic telangiectasia 1 not provided
Variation info
Gene ENG LOC102723566
CLNDBN Haemorrhagic telangiectasia 1 not provided
Reversed 0
HGVS NC_000009.11:g.130581941T>C
CLNSRC
CLNACC RCV000149883.1, RCV000256118.1,