rs66929517

Orientation

minus

Stabilized

minus

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

Make rs66929517(C;C)

Make rs66929517(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50190334

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs66929517
dbSNP (classic)	rs66929517
ClinGen	rs66929517
ebi	rs66929517
HLI	rs66929517
Exac	rs66929517
Gnomad	rs66929517
Varsome	rs66929517
LitVar	rs66929517
Map	rs66929517
PheGenI	rs66929517
Biobank	rs66929517
1000 genomes	rs66929517
hgdp	rs66929517
ensembl	rs66929517
geneview	rs66929517
scholar	rs66929517
google	rs66929517
pharmgkb	rs66929517
gwascentral	rs66929517
openSNP	rs66929517
23andMe	rs66929517
SNPshot	rs66929517
SNPdbe	rs66929517
MSV3d	rs66929517
GWAS Ctlg	rs66929517

Max Magnitude

0

OMIM	120150
Desc
Variant	0032
Related	also

ClinVar
Risk	rs66929517(C;C) rs66929517(T;T)
Alt	rs66929517(C;C) rs66929517(T;T)
Reference	Rs66929517(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48267695C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018855.27,