rs72653169

Orientation

minus

Stabilized

minus

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

Make rs72653169(A;A)

Make rs72653169(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50188920

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72653169
dbSNP (classic)	rs72653169
ClinGen	rs72653169
ebi	rs72653169
HLI	rs72653169
Exac	rs72653169
Gnomad	rs72653169
Varsome	rs72653169
LitVar	rs72653169
Map	rs72653169
PheGenI	rs72653169
Biobank	rs72653169
1000 genomes	rs72653169
hgdp	rs72653169
ensembl	rs72653169
geneview	rs72653169
scholar	rs72653169
google	rs72653169
pharmgkb	rs72653169
gwascentral	rs72653169
openSNP	rs72653169
23andMe	rs72653169
SNPshot	rs72653169
SNPdbe	rs72653169
MSV3d	rs72653169
GWAS Ctlg	rs72653169

Max Magnitude

0

OMIM	120150
Desc
Variant	0012
Related	also

ClinVar
Risk	rs72653169(A;A)
Alt	rs72653169(A;A)
Reference	Rs72653169(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.48266281C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018836.27,