rs72651614

Orientation

minus

Stabilized

minus

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

Make rs72651614(C;T)

Make rs72651614(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50193023

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72651614
dbSNP (classic)	rs72651614
ClinGen	rs72651614
ebi	rs72651614
HLI	rs72651614
Exac	rs72651614
Gnomad	rs72651614
Varsome	rs72651614
LitVar	rs72651614
Map	rs72651614
PheGenI	rs72651614
Biobank	rs72651614
1000 genomes	rs72651614
hgdp	rs72651614
ensembl	rs72651614
geneview	rs72651614
scholar	rs72651614
google	rs72651614
pharmgkb	rs72651614
gwascentral	rs72651614
openSNP	rs72651614
23andMe	rs72651614
SNPshot	rs72651614
SNPdbe	rs72651614
MSV3d	rs72651614
GWAS Ctlg	rs72651614

Max Magnitude

0

ClinVar
Risk	rs72651614(G;G) rs72651614(T;T)
Alt	rs72651614(G;G) rs72651614(T;T)
Reference	Rs72651614(C;C)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type I
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type I
Reversed	1
HGVS	NC_000017.10:g.48270384G>A
CLNSRC
CLNACC	RCV000490706.1,