rs193922157

Orientation

minus

Stabilized

minus

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

Make rs193922157(G;T)

Make rs193922157(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50198459

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922157
dbSNP (classic)	rs193922157
ClinGen	rs193922157
ebi	rs193922157
HLI	rs193922157
Exac	rs193922157
Gnomad	rs193922157
Varsome	rs193922157
LitVar	rs193922157
Map	rs193922157
PheGenI	rs193922157
Biobank	rs193922157
1000 genomes	rs193922157
hgdp	rs193922157
ensembl	rs193922157
geneview	rs193922157
scholar	rs193922157
google	rs193922157
pharmgkb	rs193922157
gwascentral	rs193922157
openSNP	rs193922157
23andMe	rs193922157
SNPshot	rs193922157
SNPdbe	rs193922157
MSV3d	rs193922157
GWAS Ctlg	rs193922157

Max Magnitude

0

ClinVar
Risk	rs193922157(A;A) rs193922157(T;T)
Alt	rs193922157(A;A) rs193922157(T;T)
Reference	Rs193922157(G;G)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48275820C>A
CLNSRC	ClinVar
CLNACC	RCV000029579.1,