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rs1085307443

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome15
Position40003201
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs1085307443
dbSNP (old)rs1085307443
ClinGenrs1085307443
ebirs1085307443
HLIrs1085307443
Exacrs1085307443
Gnomadrs1085307443
Varsomers1085307443
Maprs1085307443
PheGenIrs1085307443
Biobankrs1085307443
1000 genomesrs1085307443
hgdprs1085307443
ensemblrs1085307443
gopubmedrs1085307443
geneviewrs1085307443
scholarrs1085307443
googlers1085307443
pharmgkbrs1085307443
gwascentralrs1085307443
openSNPrs1085307443
23andMers1085307443
23andMe allrs1085307443
SNPshotrs1085307443
SNPdbers1085307443
MSV3drs1085307443
GWAS Ctlgrs1085307443
Max Magnitude0
ClinVar
Risk rs1085307443(T;T)
Alt rs1085307443(T;T)
Reference Rs1085307443(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.40295402C>T
CLNSRC
CLNACC RCV000488475.1,