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rs373842615

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs373842615(C;C)
Make rs373842615(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position127819662
GeneENG
is asnp
is mentioned by
dbSNPrs373842615
ebirs373842615
HLIrs373842615
Exacrs373842615
Varsomers373842615
Maprs373842615
PheGenIrs373842615
hapmaprs373842615
1000 genomesrs373842615
hgdprs373842615
ensemblrs373842615
gopubmedrs373842615
geneviewrs373842615
scholarrs373842615
googlers373842615
pharmgkbrs373842615
gwascentralrs373842615
openSNPrs373842615
23andMers373842615
23andMe allrs373842615
SNP Nexus

SNPshotrs373842615
SNPdbers373842615
MSV3drs373842615
GWAS Ctlgrs373842615
Max Magnitude0
ClinVar
Risk rs373842615(C;C)
Alt rs373842615(C;C)
Reference rs373842615(T;T)
Significance Pathogenic
Disease Haemorrhagic telangiectasia 1
Variation info
Gene ENG
CLNDBN Haemorrhagic telangiectasia 1
Reversed 0
HGVS NC_000009.11:g.130581941T>C
CLNSRC
CLNACC RCV000149883.1,