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rs587776916

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776916(A;A)
Make rs587776916(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position299504
GeneIFITM5
is asnp
is mentioned by
dbSNPrs587776916
ebirs587776916
HLIrs587776916
Exacrs587776916
Varsomers587776916
Maprs587776916
PheGenIrs587776916
hapmaprs587776916
1000 genomesrs587776916
hgdprs587776916
ensemblrs587776916
gopubmedrs587776916
geneviewrs587776916
scholarrs587776916
googlers587776916
pharmgkbrs587776916
gwascentralrs587776916
openSNPrs587776916
23andMers587776916
23andMe allrs587776916
SNP Nexus

SNPshotrs587776916
SNPdbers587776916
MSV3drs587776916
GWAS Ctlgrs587776916
Max Magnitude0
ClinVar
Risk rs587776916(A,G;A,G)
Alt rs587776916(A,G;A,G)
Reference rs587776916(C;C)
Significance Pathogenic
Disease Osteogenesis imperfecta type 5
Variation info
Gene IFITM5
CLNDBN Osteogenesis imperfecta type 5
Reversed 1
HGVS NC_000011.9:g.299504G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030773.4,