rs72645320

Orientation

minus

Stabilized

minus

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

Make rs72645320(A;A)

Make rs72645320(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50197053

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72645320
dbSNP (classic)	rs72645320
ClinGen	rs72645320
ebi	rs72645320
HLI	rs72645320
Exac	rs72645320
Gnomad	rs72645320
Varsome	rs72645320
LitVar	rs72645320
Map	rs72645320
PheGenI	rs72645320
Biobank	rs72645320
1000 genomes	rs72645320
hgdp	rs72645320
ensembl	rs72645320
geneview	rs72645320
scholar	rs72645320
google	rs72645320
pharmgkb	rs72645320
gwascentral	rs72645320
openSNP	rs72645320
23andMe	rs72645320
SNPshot	rs72645320
SNPdbe	rs72645320
MSV3d	rs72645320
GWAS Ctlg	rs72645320

Max Magnitude

0

OMIM	120150
Desc
Variant	0065
Related	also

ClinVar
Risk	rs72645320(A;A)
Alt	rs72645320(A;A)
Reference	Rs72645320(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type III
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type III
Reversed	1
HGVS	NC_000017.10:g.48274414C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018892.25,