rs34940368

Orientation

minus

Stabilized

minus

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

Make rs34940368(C;G)

Make rs34940368(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50186425

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs34940368
dbSNP (classic)	rs34940368
ClinGen	rs34940368
ebi	rs34940368
HLI	rs34940368
Exac	rs34940368
Gnomad	rs34940368
Varsome	rs34940368
LitVar	rs34940368
Map	rs34940368
PheGenI	rs34940368
Biobank	rs34940368
1000 genomes	rs34940368
hgdp	rs34940368
ensembl	rs34940368
geneview	rs34940368
scholar	rs34940368
google	rs34940368
pharmgkb	rs34940368
gwascentral	rs34940368
openSNP	rs34940368
23andMe	rs34940368
SNPshot	rs34940368
SNPdbe	rs34940368
MSV3d	rs34940368
GWAS Ctlg	rs34940368

Max Magnitude

0

ClinVar
Risk	rs34940368(G;G) rs34940368(T;T)
Alt	rs34940368(G;G) rs34940368(T;T)
Reference	Rs34940368(C;C)
Significance	Pathogenic
Disease	Osteogenesis imperfecta Ehlers-Danlos syndrome Osteogenesis Imperfecta Infantile cortical hyperostosis not provided Osteogenesis imperfecta with normal sclerae
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta Ehlers-Danlos syndrome, type 7A Osteogenesis Imperfecta, Dominant Infantile cortical hyperostosis not provided Osteogenesis imperfecta with normal sclerae, dominant form
Reversed	1
HGVS	NC_000017.10:g.48263786G>A; NC_000017.10:g.48263786G>C
CLNSRC
CLNACC	RCV000029577.1, RCV000282297.1, RCV000318567.1, RCV000371828.1, RCV000435034.1, RCV000490717.1,