rs1057518930

Orientation

minus

Stabilized

minus

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

Make rs1057518930(C;C)

Make rs1057518930(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50197009

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs1057518930
dbSNP (classic)	rs1057518930
ClinGen	rs1057518930
ebi	rs1057518930
HLI	rs1057518930
Exac	rs1057518930
Gnomad	rs1057518930
Varsome	rs1057518930
LitVar	rs1057518930
Map	rs1057518930
PheGenI	rs1057518930
Biobank	rs1057518930
1000 genomes	rs1057518930
hgdp	rs1057518930
ensembl	rs1057518930
geneview	rs1057518930
scholar	rs1057518930
google	rs1057518930
pharmgkb	rs1057518930
gwascentral	rs1057518930
openSNP	rs1057518930
23andMe	rs1057518930
SNPshot	rs1057518930
SNPdbe	rs1057518930
MSV3d	rs1057518930
GWAS Ctlg	rs1057518930

Max Magnitude

0

ClinVar
Risk	rs1057518930(C;C)
Alt	rs1057518930(C;C)
Reference	Rs1057518930(G;G)
Significance	Pathogenic
Disease	Blue sclerae Increased susceptibility to fractures Osteopenia
Variation	info
Gene	COL1A1
CLNDBN	Blue sclerae Increased susceptibility to fractures Osteopenia
Reversed	1
HGVS	NC_000017.10:g.48274370C>G
CLNSRC
CLNACC	RCV000415384.1,