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rs67682641

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs67682641(A;A)
Make rs67682641(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50194375
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs67682641
ebirs67682641
HLIrs67682641
Exacrs67682641
Varsomers67682641
Maprs67682641
PheGenIrs67682641
hapmaprs67682641
1000 genomesrs67682641
hgdprs67682641
ensemblrs67682641
gopubmedrs67682641
geneviewrs67682641
scholarrs67682641
googlers67682641
pharmgkbrs67682641
gwascentralrs67682641
openSNPrs67682641
23andMers67682641
23andMe allrs67682641
SNP Nexus

SNPshotrs67682641
SNPdbers67682641
MSV3drs67682641
GWAS Ctlgrs67682641
Max Magnitude0
OMIM120150
Desc
Variant0042
Relatedalso


ClinVar
Risk rs67682641(A,T;A,T)
Alt rs67682641(A,T;A,T)
Reference rs67682641(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type III
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type III
Reversed 1
HGVS NC_000017.10:g.48271736C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018865.27,