rs72653152

Orientation

minus

Stabilized

minus

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

Make rs72653152(G;T)

Make rs72653152(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50189520

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72653152
dbSNP (classic)	rs72653152
ClinGen	rs72653152
ebi	rs72653152
HLI	rs72653152
Exac	rs72653152
Gnomad	rs72653152
Varsome	rs72653152
LitVar	rs72653152
Map	rs72653152
PheGenI	rs72653152
Biobank	rs72653152
1000 genomes	rs72653152
hgdp	rs72653152
ensembl	rs72653152
geneview	rs72653152
scholar	rs72653152
google	rs72653152
pharmgkb	rs72653152
gwascentral	rs72653152
openSNP	rs72653152
23andMe	rs72653152
SNPshot	rs72653152
SNPdbe	rs72653152
MSV3d	rs72653152
GWAS Ctlg	rs72653152

Max Magnitude

0

OMIM	120150
Desc
Variant	0010
Related	also

ClinVar
Risk	rs72653152(T;T)
Alt	rs72653152(T;T)
Reference	Rs72653152(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48266881C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018834.27,