rs72656324

Orientation

minus

Stabilized

minus

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

Make rs72656324(G;T)

Make rs72656324(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50187050

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72656324
dbSNP (classic)	rs72656324
ClinGen	rs72656324
ebi	rs72656324
HLI	rs72656324
Exac	rs72656324
Gnomad	rs72656324
Varsome	rs72656324
LitVar	rs72656324
Map	rs72656324
PheGenI	rs72656324
Biobank	rs72656324
1000 genomes	rs72656324
hgdp	rs72656324
ensembl	rs72656324
geneview	rs72656324
scholar	rs72656324
google	rs72656324
pharmgkb	rs72656324
gwascentral	rs72656324
openSNP	rs72656324
23andMe	rs72656324
SNPshot	rs72656324
SNPdbe	rs72656324
MSV3d	rs72656324
GWAS Ctlg	rs72656324

Max Magnitude

0

OMIM	120150
Desc
Variant	0018
Related	also

ClinVar
Risk	rs72656324(T;T)
Alt	rs72656324(T;T)
Reference	Rs72656324(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48264411C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018842.27,