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rs1085307440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome15
Position39976734
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs1085307440
dbSNP (old)rs1085307440
ClinGenrs1085307440
ebirs1085307440
HLIrs1085307440
Exacrs1085307440
Gnomadrs1085307440
Varsomers1085307440
LitVarrs1085307440
Maprs1085307440
PheGenIrs1085307440
Biobankrs1085307440
1000 genomesrs1085307440
hgdprs1085307440
ensemblrs1085307440
gopubmedrs1085307440
geneviewrs1085307440
scholarrs1085307440
googlers1085307440
pharmgkbrs1085307440
gwascentralrs1085307440
openSNPrs1085307440
23andMers1085307440
23andMe allrs1085307440
SNPshotrs1085307440
SNPdbers1085307440
MSV3drs1085307440
GWAS Ctlgrs1085307440
Max Magnitude0
ClinVar
Risk rs1085307440(CACT;CACT)
Alt rs1085307440(CACT;CACT)
Reference Rs1085307440(-;-)
Significance Pathogenic
Disease Familial pulmonary capillary hemangiomatosis
Variation info
Gene EIF2AK4
CLNDBN Familial pulmonary capillary hemangiomatosis
Reversed 0
HGVS NC_000015.9:g.40268932_40268935dup
CLNSRC
CLNACC RCV000488596.1,