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rs1085307439

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Chromosome15
Position39943479
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs1085307439
dbSNP (old)rs1085307439
ClinGenrs1085307439
ebirs1085307439
HLIrs1085307439
Exacrs1085307439
Gnomadrs1085307439
Varsomers1085307439
Maprs1085307439
PheGenIrs1085307439
Biobankrs1085307439
1000 genomesrs1085307439
hgdprs1085307439
ensemblrs1085307439
gopubmedrs1085307439
geneviewrs1085307439
scholarrs1085307439
googlers1085307439
pharmgkbrs1085307439
gwascentralrs1085307439
openSNPrs1085307439
23andMers1085307439
23andMe allrs1085307439
SNPshotrs1085307439
SNPdbers1085307439
MSV3drs1085307439
GWAS Ctlgrs1085307439
Max Magnitude0
ClinVar
Risk rs1085307439(-;-)
Alt rs1085307439(-;-)
Reference Rs1085307439(TG;TG)
Significance Pathogenic
Disease Familial pulmonary capillary hemangiomatosis
Variation info
Gene EIF2AK4
CLNDBN Familial pulmonary capillary hemangiomatosis
Reversed 0
HGVS NC_000015.9:g.40235680_40235681delTG
CLNSRC
CLNACC RCV000488788.1,