rs72645323

Orientation

minus

Stabilized

minus

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

Make rs72645323(A;A)

Make rs72645323(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50197027

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72645323
dbSNP (classic)	rs72645323
ClinGen	rs72645323
ebi	rs72645323
HLI	rs72645323
Exac	rs72645323
Gnomad	rs72645323
Varsome	rs72645323
LitVar	rs72645323
Map	rs72645323
PheGenI	rs72645323
Biobank	rs72645323
1000 genomes	rs72645323
hgdp	rs72645323
ensembl	rs72645323
geneview	rs72645323
scholar	rs72645323
google	rs72645323
pharmgkb	rs72645323
gwascentral	rs72645323
openSNP	rs72645323
23andMe	rs72645323
SNPshot	rs72645323
SNPdbe	rs72645323
MSV3d	rs72645323
GWAS Ctlg	rs72645323

Max Magnitude

0

OMIM	120150
Desc
Variant	0034
Related	also

ClinVar
Risk	rs72645323(A;A)
Alt	rs72645323(A;A)
Reference	Rs72645323(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48274388C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018857.23,