rs139955975

Orientation

plus

Stabilized

plus

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

Make rs139955975(C;T)

Make rs139955975(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50195937

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs139955975
dbSNP (classic)	rs139955975
ClinGen	rs139955975
ebi	rs139955975
HLI	rs139955975
Exac	rs139955975
Gnomad	rs139955975
Varsome	rs139955975
LitVar	rs139955975
Map	rs139955975
PheGenI	rs139955975
Biobank	rs139955975
1000 genomes	rs139955975
hgdp	rs139955975
ensembl	rs139955975
geneview	rs139955975
scholar	rs139955975
google	rs139955975
pharmgkb	rs139955975
gwascentral	rs139955975
openSNP	rs139955975
23andMe	rs139955975
SNPshot	rs139955975
SNPdbe	rs139955975
MSV3d	rs139955975
GWAS Ctlg	rs139955975

Max Magnitude

0

ClinVar
Risk	rs139955975(T;T)
Alt	rs139955975(T;T)
Reference	Rs139955975(C;C)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta Infantile cortical hyperostosis Ehlers-Danlos syndrome Osteogenesis Imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta Infantile cortical hyperostosis Ehlers-Danlos syndrome, type 7A Osteogenesis Imperfecta, Dominant
Reversed	0
HGVS	NC_000017.10:g.48273298C>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029552.1, RCV000262664.1, RCV000320157.1, RCV000367913.1,