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rs1057516036

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516036(A;A)
Make rs1057516036(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position94423065
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs1057516036
dbSNP (old)rs1057516036
ClinGenrs1057516036
ebirs1057516036
HLIrs1057516036
Exacrs1057516036
Gnomadrs1057516036
Varsomers1057516036
LitVarrs1057516036
Maprs1057516036
PheGenIrs1057516036
Biobankrs1057516036
1000 genomesrs1057516036
hgdprs1057516036
ensemblrs1057516036
gopubmedrs1057516036
geneviewrs1057516036
scholarrs1057516036
googlers1057516036
pharmgkbrs1057516036
gwascentralrs1057516036
openSNPrs1057516036
23andMers1057516036
23andMe allrs1057516036
SNPshotrs1057516036
SNPdbers1057516036
MSV3drs1057516036
GWAS Ctlgrs1057516036
Max Magnitude0
ClinVar
Risk rs1057516036(A;A)
Alt rs1057516036(A;A)
Reference Rs1057516036(G;G)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 0
HGVS NC_000007.13:g.94052377G>A
CLNSRC
CLNACC RCV000408630.1,