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rs72658176

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72658176(A;A)
Make rs72658176(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94420604
GeneCHRNA1, COL1A2
is asnp
is mentioned by
dbSNPrs72658176
ebirs72658176
HLIrs72658176
Exacrs72658176
Varsomers72658176
Maprs72658176
PheGenIrs72658176
hapmaprs72658176
1000 genomesrs72658176
hgdprs72658176
ensemblrs72658176
gopubmedrs72658176
geneviewrs72658176
scholarrs72658176
googlers72658176
pharmgkbrs72658176
gwascentralrs72658176
openSNPrs72658176
23andMers72658176
23andMe allrs72658176
SNP Nexus

SNPshotrs72658176
SNPdbers72658176
MSV3drs72658176
GWAS Ctlgrs72658176
Max Magnitude0
OMIM120160
Desc
Variant0039
Relatedalso


ClinVar
Risk rs72658176(A;A)
Alt rs72658176(A;A)
Reference rs72658176(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.94049916G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018808.28,