rs72645365

Orientation

minus

Stabilized

minus

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

Make rs72645365(G;T)

Make rs72645365(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50195656

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72645365
dbSNP (classic)	rs72645365
ClinGen	rs72645365
ebi	rs72645365
HLI	rs72645365
Exac	rs72645365
Gnomad	rs72645365
Varsome	rs72645365
LitVar	rs72645365
Map	rs72645365
PheGenI	rs72645365
Biobank	rs72645365
1000 genomes	rs72645365
hgdp	rs72645365
ensembl	rs72645365
geneview	rs72645365
scholar	rs72645365
google	rs72645365
pharmgkb	rs72645365
gwascentral	rs72645365
openSNP	rs72645365
23andMe	rs72645365
SNPshot	rs72645365
SNPdbe	rs72645365
MSV3d	rs72645365
GWAS Ctlg	rs72645365

Max Magnitude

0

OMIM	120150
Desc
Variant	0028
Related	also

ClinVar
Risk	rs72645365(T;T)
Alt	rs72645365(T;T)
Reference	Rs72645365(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.48273017C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018850.24,