rs66523073

Orientation

minus

Stabilized

minus

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

Make rs66523073(A;A)

Make rs66523073(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50188777

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs66523073
dbSNP (classic)	rs66523073
ClinGen	rs66523073
ebi	rs66523073
HLI	rs66523073
Exac	rs66523073
Gnomad	rs66523073
Varsome	rs66523073
LitVar	rs66523073
Map	rs66523073
PheGenI	rs66523073
Biobank	rs66523073
1000 genomes	rs66523073
hgdp	rs66523073
ensembl	rs66523073
geneview	rs66523073
scholar	rs66523073
google	rs66523073
pharmgkb	rs66523073
gwascentral	rs66523073
openSNP	rs66523073
23andMe	rs66523073
SNPshot	rs66523073
SNPdbe	rs66523073
MSV3d	rs66523073
GWAS Ctlg	rs66523073

Max Magnitude

0

OMIM	120150
Desc
Variant	0013
Related	also

ClinVar
Risk	rs66523073(A;A)
Alt	rs66523073(A;A)
Reference	Rs66523073(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type III
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type III
Reversed	1
HGVS	NC_000017.10:g.48266138C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018837.27,