rs66527965

Orientation

minus

Stabilized

minus

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

Make rs66527965(A;A)

Make rs66527965(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50193038

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs66527965
dbSNP (classic)	rs66527965
ClinGen	rs66527965
ebi	rs66527965
HLI	rs66527965
Exac	rs66527965
Gnomad	rs66527965
Varsome	rs66527965
LitVar	rs66527965
Map	rs66527965
PheGenI	rs66527965
Biobank	rs66527965
1000 genomes	rs66527965
hgdp	rs66527965
ensembl	rs66527965
geneview	rs66527965
scholar	rs66527965
google	rs66527965
pharmgkb	rs66527965
gwascentral	rs66527965
openSNP	rs66527965
23andMe	rs66527965
SNPshot	rs66527965
SNPdbe	rs66527965
MSV3d	rs66527965
GWAS Ctlg	rs66527965

Max Magnitude

0

OMIM	120150
Desc
Variant	0033
Related	also

OMIM	120150
Desc
Variant	0044
Related	also

ClinVar
Risk	rs66527965(A;A) rs66527965(T;T)
Alt	rs66527965(A;A) rs66527965(T;T)
Reference	Rs66527965(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, type III/iv Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48270399C>A; NC_000017.10:g.48270399C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018856.28, RCV000018867.27,