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rs757852728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs757852728(G;G)
Make rs757852728(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position39976523
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs757852728
dbSNP (classic)rs757852728
ClinGenrs757852728
ebirs757852728
HLIrs757852728
Exacrs757852728
Gnomadrs757852728
Varsomers757852728
LitVarrs757852728
Maprs757852728
PheGenIrs757852728
Biobankrs757852728
1000 genomesrs757852728
hgdprs757852728
ensemblrs757852728
geneviewrs757852728
scholarrs757852728
googlers757852728
pharmgkbrs757852728
gwascentralrs757852728
openSNPrs757852728
23andMers757852728
SNPshotrs757852728
SNPdbers757852728
MSV3drs757852728
GWAS Ctlgrs757852728
Max Magnitude0
ClinVar
Risk rs757852728(G;G)
Alt rs757852728(G;G)
Reference Rs757852728(T;T)
Significance Pathogenic
Disease Familial pulmonary capillary hemangiomatosis
Variation info
Gene EIF2AK4
CLNDBN Familial pulmonary capillary hemangiomatosis
Reversed 0
HGVS NC_000015.9:g.40268724T>G
CLNSRC
CLNACC RCV000488861.1,