rs193922152

Orientation

minus

Stabilized

minus

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

Make rs193922152(A;G)

Make rs193922152(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50189208

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922152
dbSNP (classic)	rs193922152
ClinGen	rs193922152
ebi	rs193922152
HLI	rs193922152
Exac	rs193922152
Gnomad	rs193922152
Varsome	rs193922152
LitVar	rs193922152
Map	rs193922152
PheGenI	rs193922152
Biobank	rs193922152
1000 genomes	rs193922152
hgdp	rs193922152
ensembl	rs193922152
geneview	rs193922152
scholar	rs193922152
google	rs193922152
pharmgkb	rs193922152
gwascentral	rs193922152
openSNP	rs193922152
23andMe	rs193922152
SNPshot	rs193922152
SNPdbe	rs193922152
MSV3d	rs193922152
GWAS Ctlg	rs193922152

Max Magnitude

0

ClinVar
Risk	rs193922152(G;G)
Alt	rs193922152(G;G)
Reference	Rs193922152(A;A)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48266569T>C
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029572.1,