rs72656340

Orientation

minus

Stabilized

minus

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

Make rs72656340(A;G)

Make rs72656340(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50186664

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72656340
dbSNP (classic)	rs72656340
ClinGen	rs72656340
ebi	rs72656340
HLI	rs72656340
Exac	rs72656340
Gnomad	rs72656340
Varsome	rs72656340
LitVar	rs72656340
Map	rs72656340
PheGenI	rs72656340
Biobank	rs72656340
1000 genomes	rs72656340
hgdp	rs72656340
ensembl	rs72656340
geneview	rs72656340
scholar	rs72656340
google	rs72656340
pharmgkb	rs72656340
gwascentral	rs72656340
openSNP	rs72656340
23andMe	rs72656340
SNPshot	rs72656340
SNPdbe	rs72656340
MSV3d	rs72656340
GWAS Ctlg	rs72656340

Max Magnitude

0

ClinVar
Risk	rs72656340(G;G)
Alt	rs72656340(G;G)
Reference	Rs72656340(A;A)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type I
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type I
Reversed	1
HGVS	NC_000017.10:g.48264025T>C
CLNSRC
CLNACC	RCV000490719.1,