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rs74315103

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCCCCTGGT;CCCCCTGGT) 0 common in clinvar
Make rs74315103(-;-)
Make rs74315103(-;TCCCCCTGG)
Make rs74315103(TCCCCCTGG;TCCCCCTGG)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position94427638
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs74315103
dbSNP (old)rs74315103
ClinGenrs74315103
ebirs74315103
HLIrs74315103
Exacrs74315103
Varsomers74315103
Maprs74315103
PheGenIrs74315103
Biobankrs74315103
1000 genomesrs74315103
hgdprs74315103
ensemblrs74315103
gopubmedrs74315103
geneviewrs74315103
scholarrs74315103
googlers74315103
pharmgkbrs74315103
gwascentralrs74315103
openSNPrs74315103
23andMers74315103
23andMe allrs74315103
SNP Nexus

SNPshotrs74315103
SNPdbers74315103
MSV3drs74315103
GWAS Ctlgrs74315103
Max Magnitude0
ClinVar
Risk rs74315103(-;-)
Alt rs74315103(-;-)
Reference Rs74315103(CCCCCTGGT;CCCCCTGGT)
Significance Pathogenic
Disease Osteogenesis imperfecta with normal sclerae
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta with normal sclerae, dominant form
Reversed 0
HGVS NC_000007.13:g.94056950_94056958delTCCCCCTGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000018804.29,