rs72656303

Orientation

minus

Stabilized

minus

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

Make rs72656303(G;T)

Make rs72656303(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50188113

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72656303
dbSNP (classic)	rs72656303
ClinGen	rs72656303
ebi	rs72656303
HLI	rs72656303
Exac	rs72656303
Gnomad	rs72656303
Varsome	rs72656303
LitVar	rs72656303
Map	rs72656303
PheGenI	rs72656303
Biobank	rs72656303
1000 genomes	rs72656303
hgdp	rs72656303
ensembl	rs72656303
geneview	rs72656303
scholar	rs72656303
google	rs72656303
pharmgkb	rs72656303
gwascentral	rs72656303
openSNP	rs72656303
23andMe	rs72656303
SNPshot	rs72656303
SNPdbe	rs72656303
MSV3d	rs72656303
GWAS Ctlg	rs72656303

Max Magnitude

0

OMIM	120150
Desc
Variant	0016
Related	also

ClinVar
Risk	rs72656303(T;T)
Alt	rs72656303(T;T)
Reference	Rs72656303(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48265474C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018840.27,