rs797045033

Orientation

minus

Stabilized

minus

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

Make rs797045033(A;A)

Make rs797045033(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

50189239

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs797045033
dbSNP (classic)	rs797045033
ClinGen	rs797045033
ebi	rs797045033
HLI	rs797045033
Exac	rs797045033
Gnomad	rs797045033
Varsome	rs797045033
LitVar	rs797045033
Map	rs797045033
PheGenI	rs797045033
Biobank	rs797045033
1000 genomes	rs797045033
hgdp	rs797045033
ensembl	rs797045033
geneview	rs797045033
scholar	rs797045033
google	rs797045033
pharmgkb	rs797045033
gwascentral	rs797045033
openSNP	rs797045033
23andMe	rs797045033
SNPshot	rs797045033
SNPdbe	rs797045033
MSV3d	rs797045033
GWAS Ctlg	rs797045033

Max Magnitude

0

ClinVar
Risk	rs797045033(A;A)
Alt	rs797045033(A;A)
Reference	Rs797045033(G;G)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta type I
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type I
Reversed	1
HGVS	NC_000017.10:g.48266600C>T
CLNSRC	Baylor College of Medicine
CLNACC	RCV000191071.1,