rs193922155

Orientation

minus

Stabilized

minus

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

Make rs193922155(A;G)

Make rs193922155(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50199329

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs193922155
dbSNP (classic)	rs193922155
ClinGen	rs193922155
ebi	rs193922155
HLI	rs193922155
Exac	rs193922155
Gnomad	rs193922155
Varsome	rs193922155
LitVar	rs193922155
Map	rs193922155
PheGenI	rs193922155
Biobank	rs193922155
1000 genomes	rs193922155
hgdp	rs193922155
ensembl	rs193922155
geneview	rs193922155
scholar	rs193922155
google	rs193922155
pharmgkb	rs193922155
gwascentral	rs193922155
openSNP	rs193922155
23andMe	rs193922155
SNPshot	rs193922155
SNPdbe	rs193922155
MSV3d	rs193922155
GWAS Ctlg	rs193922155

Max Magnitude

0

ClinVar
Risk	rs193922155(G;G)
Alt	rs193922155(G;G)
Reference	Rs193922155(A;A)
Significance	Probable-Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta
Reversed	1
HGVS	NC_000017.10:g.48276690T>C
CLNSRC	ClinVar
CLNACC	RCV000029576.1,