rs72656343

Orientation

minus

Stabilized

minus

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

Make rs72656343(G;T)

Make rs72656343(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50186386

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72656343
dbSNP (classic)	rs72656343
ClinGen	rs72656343
ebi	rs72656343
HLI	rs72656343
Exac	rs72656343
Gnomad	rs72656343
Varsome	rs72656343
LitVar	rs72656343
Map	rs72656343
PheGenI	rs72656343
Biobank	rs72656343
1000 genomes	rs72656343
hgdp	rs72656343
ensembl	rs72656343
geneview	rs72656343
scholar	rs72656343
google	rs72656343
pharmgkb	rs72656343
gwascentral	rs72656343
openSNP	rs72656343
23andMe	rs72656343
SNPshot	rs72656343
SNPdbe	rs72656343
MSV3d	rs72656343
GWAS Ctlg	rs72656343

Max Magnitude

0

OMIM	120150
Desc
Variant	0053
Related	also

ClinVar
Risk	rs72656343(T;T)
Alt	rs72656343(T;T)
Reference	Rs72656343(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type 2
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type 2, thin-bone
Reversed	1
HGVS	NC_000017.10:g.48263747C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018876.26,