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rs1085307442

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome15
Position40001224
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs1085307442
dbSNP (old)rs1085307442
ClinGenrs1085307442
ebirs1085307442
HLIrs1085307442
Exacrs1085307442
Gnomadrs1085307442
Varsomers1085307442
Maprs1085307442
PheGenIrs1085307442
Biobankrs1085307442
1000 genomesrs1085307442
hgdprs1085307442
ensemblrs1085307442
gopubmedrs1085307442
geneviewrs1085307442
scholarrs1085307442
googlers1085307442
pharmgkbrs1085307442
gwascentralrs1085307442
openSNPrs1085307442
23andMers1085307442
23andMe allrs1085307442
SNPshotrs1085307442
SNPdbers1085307442
MSV3drs1085307442
GWAS Ctlgrs1085307442
Max Magnitude0
ClinVar
Risk rs1085307442(A;A)
Alt rs1085307442(A;A)
Reference Rs1085307442(G;G)
Significance Pathogenic
Disease Familial pulmonary capillary hemangiomatosis
Variation info
Gene EIF2AK4
CLNDBN Familial pulmonary capillary hemangiomatosis
Reversed 0
HGVS NC_000015.9:g.40293425G>A
CLNSRC
CLNACC RCV000488748.1,