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rs759101551

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs759101551(C;G)
Make rs759101551(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position39997054
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs759101551
dbSNP (classic)rs759101551
ClinGenrs759101551
ebirs759101551
HLIrs759101551
Exacrs759101551
Gnomadrs759101551
Varsomers759101551
LitVarrs759101551
Maprs759101551
PheGenIrs759101551
Biobankrs759101551
1000 genomesrs759101551
hgdprs759101551
ensemblrs759101551
geneviewrs759101551
scholarrs759101551
googlers759101551
pharmgkbrs759101551
gwascentralrs759101551
openSNPrs759101551
23andMers759101551
SNPshotrs759101551
SNPdbers759101551
MSV3drs759101551
GWAS Ctlgrs759101551
Max Magnitude0
ClinVar
Risk rs759101551(G;G) rs759101551(T;T)
Alt rs759101551(G;G) rs759101551(T;T)
Reference Rs759101551(C;C)
Significance Pathogenic
Disease Familial pulmonary capillary hemangiomatosis
Variation info
Gene EIF2AK4
CLNDBN Familial pulmonary capillary hemangiomatosis
Reversed 0
HGVS NC_000015.9:g.40289255C>T
CLNSRC
CLNACC RCV000488559.1,