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rs72658200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72658200(A;A)
Make rs72658200(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94424345
GeneCHRNA1, COL1A2
is asnp
is mentioned by
dbSNPrs72658200
ebirs72658200
HLIrs72658200
Exacrs72658200
Varsomers72658200
Maprs72658200
PheGenIrs72658200
hapmaprs72658200
1000 genomesrs72658200
hgdprs72658200
ensemblrs72658200
gopubmedrs72658200
geneviewrs72658200
scholarrs72658200
googlers72658200
pharmgkbrs72658200
gwascentralrs72658200
openSNPrs72658200
23andMers72658200
23andMe allrs72658200
SNP Nexus

SNPshotrs72658200
SNPdbers72658200
MSV3drs72658200
GWAS Ctlgrs72658200
Max Magnitude0
OMIM120160
Desc
Variant0033
Relatedalso


ClinVar
Risk rs72658200(A;A)
Alt rs72658200(A;A)
Reference rs72658200(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type III
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta type III
Reversed 0
HGVS NC_000007.13:g.94053657G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018802.29,