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rs72659338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs72659338(A;A)
Make rs72659338(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94427654
GeneCHRNA1, COL1A2
is asnp
is mentioned by
dbSNPrs72659338
ebirs72659338
HLIrs72659338
Exacrs72659338
Varsomers72659338
Maprs72659338
PheGenIrs72659338
hapmaprs72659338
1000 genomesrs72659338
hgdprs72659338
ensemblrs72659338
gopubmedrs72659338
geneviewrs72659338
scholarrs72659338
googlers72659338
pharmgkbrs72659338
gwascentralrs72659338
openSNPrs72659338
23andMers72659338
23andMe allrs72659338
SNP Nexus

SNPshotrs72659338
SNPdbers72659338
MSV3drs72659338
GWAS Ctlgrs72659338
Max Magnitude0
OMIM120160
Desc
Variant0055
Relatedalso


ClinVar
Risk rs72659338(A;A)
Alt rs72659338(A;A)
Reference rs72659338(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.94056966G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018824.28,