rs72659319

Orientation

plus

Stabilized

plus

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

Make rs72659319(A;A)

Make rs72659319(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94426459

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs72659319
dbSNP (classic)	rs72659319
ClinGen	rs72659319
ebi	rs72659319
HLI	rs72659319
Exac	rs72659319
Gnomad	rs72659319
Varsome	rs72659319
LitVar	rs72659319
Map	rs72659319
PheGenI	rs72659319
Biobank	rs72659319
1000 genomes	rs72659319
hgdp	rs72659319
ensembl	rs72659319
geneview	rs72659319
scholar	rs72659319
google	rs72659319
pharmgkb	rs72659319
gwascentral	rs72659319
openSNP	rs72659319
23andMe	rs72659319
SNPshot	rs72659319
SNPdbe	rs72659319
MSV3d	rs72659319
GWAS Ctlg	rs72659319

Max Magnitude

0

OMIM	120160
Desc
Variant	0004
Related	also

ClinVar
Risk	rs72659319(A;A) rs72659319(C;C)
Alt	rs72659319(A;A) rs72659319(C;C)
Reference	Rs72659319(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae Osteogenesis imperfecta not provided
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta, recessive perinatal lethal not provided
Reversed	0
HGVS	NC_000007.13:g.94055771G>A; NC_000007.13:g.94055771G>C
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000197038.1, RCV000490657.1, RCV000018775.28, RCV000321212.1,