rs67682641

Orientation

minus

Stabilized

minus

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

Make rs67682641(A;A)

Make rs67682641(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50194375

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs67682641
dbSNP (classic)	rs67682641
ClinGen	rs67682641
ebi	rs67682641
HLI	rs67682641
Exac	rs67682641
Gnomad	rs67682641
Varsome	rs67682641
LitVar	rs67682641
Map	rs67682641
PheGenI	rs67682641
Biobank	rs67682641
1000 genomes	rs67682641
hgdp	rs67682641
ensembl	rs67682641
geneview	rs67682641
scholar	rs67682641
google	rs67682641
pharmgkb	rs67682641
gwascentral	rs67682641
openSNP	rs67682641
23andMe	rs67682641
SNPshot	rs67682641
SNPdbe	rs67682641
MSV3d	rs67682641
GWAS Ctlg	rs67682641

Max Magnitude

0

OMIM	120150
Desc
Variant	0042
Related	also

ClinVar
Risk	rs67682641(A;A) rs67682641(T;T)
Alt	rs67682641(A;A) rs67682641(T;T)
Reference	Rs67682641(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.48271736C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018865.27,