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rs1085307441

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome15
Position39978148
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs1085307441
dbSNP (old)rs1085307441
ClinGenrs1085307441
ebirs1085307441
HLIrs1085307441
Exacrs1085307441
Gnomadrs1085307441
Varsomers1085307441
Maprs1085307441
PheGenIrs1085307441
Biobankrs1085307441
1000 genomesrs1085307441
hgdprs1085307441
ensemblrs1085307441
gopubmedrs1085307441
geneviewrs1085307441
scholarrs1085307441
googlers1085307441
pharmgkbrs1085307441
gwascentralrs1085307441
openSNPrs1085307441
23andMers1085307441
23andMe allrs1085307441
SNPshotrs1085307441
SNPdbers1085307441
MSV3drs1085307441
GWAS Ctlgrs1085307441
Max Magnitude0
ClinVar
Risk rs1085307441(A;A)
Alt rs1085307441(A;A)
Reference Rs1085307441(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.40270349G>A
CLNSRC
CLNACC RCV000488727.1,