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rs72659319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72659319(A;A)
Make rs72659319(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94426459
GeneCHRNA1, COL1A2
is asnp
is mentioned by
dbSNPrs72659319
ebirs72659319
HLIrs72659319
Exacrs72659319
Varsomers72659319
Maprs72659319
PheGenIrs72659319
hapmaprs72659319
1000 genomesrs72659319
hgdprs72659319
ensemblrs72659319
gopubmedrs72659319
geneviewrs72659319
scholarrs72659319
googlers72659319
pharmgkbrs72659319
gwascentralrs72659319
openSNPrs72659319
23andMers72659319
23andMe allrs72659319
SNP Nexus

SNPshotrs72659319
SNPdbers72659319
MSV3drs72659319
GWAS Ctlgrs72659319
Max Magnitude0
OMIM120160
Desc
Variant0004
Relatedalso


ClinVar
Risk rs72659319(A,C;A,C)
Alt rs72659319(A,C;A,C)
Reference rs72659319(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta, recessive perinatal lethal
Reversed 0
HGVS NC_000007.13:g.94055771G>A; NC_000007.13:g.94055771G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000197038.1, RCV000018775.28,