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rs756902589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs756902589(G;T)
Make rs756902589(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position40008196
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs756902589
dbSNP (classic)rs756902589
ClinGenrs756902589
ebirs756902589
HLIrs756902589
Exacrs756902589
Gnomadrs756902589
Varsomers756902589
LitVarrs756902589
Maprs756902589
PheGenIrs756902589
Biobankrs756902589
1000 genomesrs756902589
hgdprs756902589
ensemblrs756902589
geneviewrs756902589
scholarrs756902589
googlers756902589
pharmgkbrs756902589
gwascentralrs756902589
openSNPrs756902589
23andMers756902589
SNPshotrs756902589
SNPdbers756902589
MSV3drs756902589
GWAS Ctlgrs756902589
Max Magnitude0
ClinVar
Risk rs756902589(T;T)
Alt rs756902589(T;T)
Reference Rs756902589(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.40300397G>T
CLNSRC
CLNACC RCV000488503.1,