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rs1085307444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome15
Position40020930
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs1085307444
dbSNP (classic)rs1085307444
ClinGenrs1085307444
ebirs1085307444
HLIrs1085307444
Exacrs1085307444
Gnomadrs1085307444
Varsomers1085307444
LitVarrs1085307444
Maprs1085307444
PheGenIrs1085307444
Biobankrs1085307444
1000 genomesrs1085307444
hgdprs1085307444
ensemblrs1085307444
geneviewrs1085307444
scholarrs1085307444
googlers1085307444
pharmgkbrs1085307444
gwascentralrs1085307444
openSNPrs1085307444
23andMers1085307444
23andMe allrs1085307444
SNPshotrs1085307444
SNPdbers1085307444
MSV3drs1085307444
GWAS Ctlgrs1085307444
Max Magnitude0
ClinVar
Risk rs1085307444(T;T)
Alt rs1085307444(T;T)
Reference Rs1085307444(-;-)
Significance Pathogenic
Disease Familial pulmonary capillary hemangiomatosis
Variation info
Gene EIF2AK4
CLNDBN Familial pulmonary capillary hemangiomatosis
Reversed 0
HGVS NC_000015.9:g.40313131dup
CLNSRC
CLNACC RCV000488784.1,