rs72656334

Orientation

minus

Stabilized

minus

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

Make rs72656334(G;T)

Make rs72656334(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50186871

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72656334
dbSNP (classic)	rs72656334
ClinGen	rs72656334
ebi	rs72656334
HLI	rs72656334
Exac	rs72656334
Gnomad	rs72656334
Varsome	rs72656334
LitVar	rs72656334
Map	rs72656334
PheGenI	rs72656334
Biobank	rs72656334
1000 genomes	rs72656334
hgdp	rs72656334
ensembl	rs72656334
geneview	rs72656334
scholar	rs72656334
google	rs72656334
pharmgkb	rs72656334
gwascentral	rs72656334
openSNP	rs72656334
23andMe	rs72656334
SNPshot	rs72656334
SNPdbe	rs72656334
MSV3d	rs72656334
GWAS Ctlg	rs72656334

Max Magnitude

0

OMIM	120150
Desc
Variant	0021
Related	also

ClinVar
Risk	rs72656334(T;T)
Alt	rs72656334(T;T)
Reference	Rs72656334(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.11:g.50186871C>A
CLNSRC	ClinVar OMIM Allelic Variant
CLNACC	RCV000018845.27,