rs67828806

minus

Geno	Mag	Summary
(A;G)	3	Possible "Oi/eds syndrome" (mild collagen disorder): Feedback Wanted
(G;G)	0	common in clinvar

Make rs67828806(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50198177

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs67828806
dbSNP (classic)	rs67828806
ClinGen	rs67828806
ebi	rs67828806
HLI	rs67828806
Exac	rs67828806
Gnomad	rs67828806
Varsome	rs67828806
LitVar	rs67828806
Map	rs67828806
PheGenI	rs67828806
Biobank	rs67828806
1000 genomes	rs67828806
hgdp	rs67828806
ensembl	rs67828806
geneview	rs67828806
scholar	rs67828806
google	rs67828806
pharmgkb	rs67828806
gwascentral	rs67828806
openSNP	rs67828806
23andMe	rs67828806
SNPshot	rs67828806
SNPdbe	rs67828806
MSV3d	rs67828806
GWAS Ctlg	rs67828806

Max Magnitude

3

OMIM	120150
Desc
Variant	0052
Related	also

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.

OMIM	120150
Desc
Variant	0064
Related	also

ClinVar
Risk	rs67828806(A;A) rs67828806(C;C)
Alt	rs67828806(A;A) rs67828806(C;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	RCV000018875.30, RCV000018891.29,