rs66721653

Orientation

minus

Stabilized

minus

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

Make rs66721653(A;A)

Make rs66721653(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50195665

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs66721653
dbSNP (classic)	rs66721653
ClinGen	rs66721653
ebi	rs66721653
HLI	rs66721653
Exac	rs66721653
Gnomad	rs66721653
Varsome	rs66721653
LitVar	rs66721653
Map	rs66721653
PheGenI	rs66721653
Biobank	rs66721653
1000 genomes	rs66721653
hgdp	rs66721653
ensembl	rs66721653
geneview	rs66721653
scholar	rs66721653
google	rs66721653
pharmgkb	rs66721653
gwascentral	rs66721653
openSNP	rs66721653
23andMe	rs66721653
SNPshot	rs66721653
SNPdbe	rs66721653
MSV3d	rs66721653
GWAS Ctlg	rs66721653

Max Magnitude

0

OMIM	120150
Desc
Variant	0003
Related	also

ClinVar
Risk	rs66721653(A;A) rs66721653(T;T)
Alt	rs66721653(A;A) rs66721653(T;T)
Reference	Rs66721653(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta with normal sclerae
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta with normal sclerae, dominant form
Reversed	1
HGVS	NC_000017.10:g.48273026C>A; NC_000017.10:g.48273026C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018827.29, RCV000490671.1,