rs72654802

Orientation

minus

Stabilized

minus

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

Make rs72654802(A;A)

Make rs72654802(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50188122

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72654802
dbSNP (classic)	rs72654802
ClinGen	rs72654802
ebi	rs72654802
HLI	rs72654802
Exac	rs72654802
Gnomad	rs72654802
Varsome	rs72654802
LitVar	rs72654802
Map	rs72654802
PheGenI	rs72654802
Biobank	rs72654802
1000 genomes	rs72654802
hgdp	rs72654802
ensembl	rs72654802
geneview	rs72654802
scholar	rs72654802
google	rs72654802
pharmgkb	rs72654802
gwascentral	rs72654802
openSNP	rs72654802
23andMe	rs72654802
SNPshot	rs72654802
SNPdbe	rs72654802
MSV3d	rs72654802
GWAS Ctlg	rs72654802

Max Magnitude

0

OMIM	120150
Desc
Variant	0040
Related	also

ClinVar
Risk	rs72654802(A;A)
Alt	rs72654802(A;A)
Reference	Rs72654802(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type I
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type I
Reversed	1
HGVS	NC_000017.10:g.48265483C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018863.28,