rs786205507

Orientation

minus

Stabilized

minus

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

Make rs786205507(A;A)

Make rs786205507(A;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

50196153

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs786205507
dbSNP (classic)	rs786205507
ClinGen	rs786205507
ebi	rs786205507
HLI	rs786205507
Exac	rs786205507
Gnomad	rs786205507
Varsome	rs786205507
LitVar	rs786205507
Map	rs786205507
PheGenI	rs786205507
Biobank	rs786205507
1000 genomes	rs786205507
hgdp	rs786205507
ensembl	rs786205507
geneview	rs786205507
scholar	rs786205507
google	rs786205507
pharmgkb	rs786205507
gwascentral	rs786205507
openSNP	rs786205507
23andMe	rs786205507
SNPshot	rs786205507
SNPdbe	rs786205507
MSV3d	rs786205507
GWAS Ctlg	rs786205507

Max Magnitude

0

ClinVar
Risk	rs786205507(A;A) rs786205507(C;C)
Alt	rs786205507(A;A) rs786205507(C;C)
Reference	Rs786205507(T;T)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type I not provided
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type I not provided
Reversed	1
HGVS	NC_000017.10:g.48273514A>G; NC_000017.10:g.48273514A>T
CLNSRC
CLNACC	RCV000490762.1, RCV000171262.1,