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rs774906916

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs774906916(C;T)
Make rs774906916(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position40003301
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs774906916
dbSNP (classic)rs774906916
ClinGenrs774906916
ebirs774906916
HLIrs774906916
Exacrs774906916
Gnomadrs774906916
Varsomers774906916
LitVarrs774906916
Maprs774906916
PheGenIrs774906916
Biobankrs774906916
1000 genomesrs774906916
hgdprs774906916
ensemblrs774906916
geneviewrs774906916
scholarrs774906916
googlers774906916
pharmgkbrs774906916
gwascentralrs774906916
openSNPrs774906916
23andMers774906916
SNPshotrs774906916
SNPdbers774906916
MSV3drs774906916
GWAS Ctlgrs774906916
Max Magnitude0
ClinVar
Risk rs774906916(T;T)
Alt rs774906916(T;T)
Reference Rs774906916(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.40295502C>T
CLNSRC
CLNACC RCV000488662.1,