rs72651661

Orientation

minus

Stabilized

minus

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

Make rs72651661(A;A)

Make rs72651661(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50190825

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72651661
dbSNP (classic)	rs72651661
ClinGen	rs72651661
ebi	rs72651661
HLI	rs72651661
Exac	rs72651661
Gnomad	rs72651661
Varsome	rs72651661
LitVar	rs72651661
Map	rs72651661
PheGenI	rs72651661
Biobank	rs72651661
1000 genomes	rs72651661
hgdp	rs72651661
ensembl	rs72651661
geneview	rs72651661
scholar	rs72651661
google	rs72651661
pharmgkb	rs72651661
gwascentral	rs72651661
openSNP	rs72651661
23andMe	rs72651661
SNPshot	rs72651661
SNPdbe	rs72651661
MSV3d	rs72651661
GWAS Ctlg	rs72651661

Max Magnitude

0

ClinVar
Risk	rs72651661(A;A)
Alt	rs72651661(A;A)
Reference	Rs72651661(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.48268186C>T
CLNSRC
CLNACC	RCV000490668.1,