rs72653131

Orientation

minus

Stabilized

minus

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

Make rs72653131(A;A)

Make rs72653131(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50190045

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72653131
dbSNP (classic)	rs72653131
ClinGen	rs72653131
ebi	rs72653131
HLI	rs72653131
Exac	rs72653131
Gnomad	rs72653131
Varsome	rs72653131
LitVar	rs72653131
Map	rs72653131
PheGenI	rs72653131
Biobank	rs72653131
1000 genomes	rs72653131
hgdp	rs72653131
ensembl	rs72653131
geneview	rs72653131
scholar	rs72653131
google	rs72653131
pharmgkb	rs72653131
gwascentral	rs72653131
openSNP	rs72653131
23andMe	rs72653131
SNPshot	rs72653131
SNPdbe	rs72653131
MSV3d	rs72653131
GWAS Ctlg	rs72653131

Max Magnitude

0

OMIM	120150
Desc
Variant	0049
Related	also

ClinVar
Risk	rs72653131(A;A)
Alt	rs72653131(A;A)
Reference	Rs72653131(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae, dominant form
Reversed	1
HGVS	NC_000017.10:g.48267406C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018872.23, RCV000490682.1,