Have questions? Visit https://www.reddit.com/r/SNPedia

rs774163084

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs774163084(C;G)
Make rs774163084(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position39988037
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs774163084
dbSNP (classic)rs774163084
ClinGenrs774163084
ebirs774163084
HLIrs774163084
Exacrs774163084
Gnomadrs774163084
Varsomers774163084
LitVarrs774163084
Maprs774163084
PheGenIrs774163084
Biobankrs774163084
1000 genomesrs774163084
hgdprs774163084
ensemblrs774163084
geneviewrs774163084
scholarrs774163084
googlers774163084
pharmgkbrs774163084
gwascentralrs774163084
openSNPrs774163084
23andMers774163084
SNPshotrs774163084
SNPdbers774163084
MSV3drs774163084
GWAS Ctlgrs774163084
Max Magnitude0
ClinVar
Risk rs774163084(G;G) rs774163084(T;T)
Alt rs774163084(G;G) rs774163084(T;T)
Reference Rs774163084(C;C)
Significance Pathogenic
Disease Familial pulmonary capillary hemangiomatosis
Variation info
Gene EIF2AK4
CLNDBN Familial pulmonary capillary hemangiomatosis
Reversed 0
HGVS NC_000015.9:g.40280238C>T
CLNSRC
CLNACC RCV000488486.1,