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rs886037660

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs886037660(-;G)
Make rs886037660(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position39967479
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs886037660
dbSNP (classic)rs886037660
ClinGenrs886037660
ebirs886037660
HLIrs886037660
Exacrs886037660
Gnomadrs886037660
Varsomers886037660
LitVarrs886037660
Maprs886037660
PheGenIrs886037660
Biobankrs886037660
1000 genomesrs886037660
hgdprs886037660
ensemblrs886037660
geneviewrs886037660
scholarrs886037660
googlers886037660
pharmgkbrs886037660
gwascentralrs886037660
openSNPrs886037660
23andMers886037660
SNPshotrs886037660
SNPdbers886037660
MSV3drs886037660
GWAS Ctlgrs886037660
Max Magnitude0
ClinVar
Risk rs886037660(G;G)
Alt rs886037660(G;G)
Reference Rs886037660(-;-)
Significance Pathogenic
Disease Familial pulmonary capillary hemangiomatosis
Variation info
Gene EIF2AK4
CLNDBN Familial pulmonary capillary hemangiomatosis
Reversed 0
HGVS NC_000015.9:g.40259680dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000087755.6,