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rs67828806

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar


Make rs67828806(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position50198177
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs67828806
ebirs67828806
HLIrs67828806
Exacrs67828806
Varsomers67828806
Maprs67828806
PheGenIrs67828806
hapmaprs67828806
1000 genomesrs67828806
hgdprs67828806
ensemblrs67828806
gopubmedrs67828806
geneviewrs67828806
scholarrs67828806
googlers67828806
pharmgkbrs67828806
gwascentralrs67828806
openSNPrs67828806
23andMers67828806
23andMe allrs67828806
SNP Nexus

SNPshotrs67828806
SNPdbers67828806
MSV3drs67828806
GWAS Ctlgrs67828806
Max Magnitude0
OMIM120150
Desc
Variant0052
Relatedalso
rs67828806, also known as c.572G>A, p.Gly191Asp and G191D, represents a rare variant in the COL1A1 gene on chromosome 17. There is one other variant known at this position, c.572G>C, p.Gly191Ala and G191A, but it appears to be even less commonly observed.

G191D is reported (in one publication) to lead as an autosomal dominant to "Oi/eds combined syndrome", combining features of osteogenesis imperfecta and Ehlers-Danlos syndrome.[PMID 15728585] See also OMIM 120150.0064

Note: this variant may be benign or at least quite variably penetrant, based on Promethease user feedback.

OMIM120150
Desc
Variant0064
Relatedalso


ClinVar
Risk rs67828806(A,C;A,C)
Alt rs67828806(A,C;A,C)
Reference rs67828806(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type 1 Oi/eds combined syndrome
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type 1, mild Oi/eds combined syndrome
Reversed 1
HGVS NC_000017.10:g.48275538C>G; NC_000017.10:g.48275538C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018875.28, RCV000018891.27,