rs1057518911

Orientation

minus

Stabilized

minus

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

Make rs1057518911(C;C)

Make rs1057518911(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

47976531

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs1057518911
dbSNP (classic)	rs1057518911
ClinGen	rs1057518911
ebi	rs1057518911
HLI	rs1057518911
Exac	rs1057518911
Gnomad	rs1057518911
Varsome	rs1057518911
LitVar	rs1057518911
Map	rs1057518911
PheGenI	rs1057518911
Biobank	rs1057518911
1000 genomes	rs1057518911
hgdp	rs1057518911
ensembl	rs1057518911
geneview	rs1057518911
scholar	rs1057518911
google	rs1057518911
pharmgkb	rs1057518911
gwascentral	rs1057518911
openSNP	rs1057518911
23andMe	rs1057518911
SNPshot	rs1057518911
SNPdbe	rs1057518911
MSV3d	rs1057518911
GWAS Ctlg	rs1057518911

Max Magnitude

0

ClinVar
Risk	rs1057518911(C;C)
Alt	rs1057518911(C;C)
Reference	Rs1057518911(G;G)
Significance	Probable-Pathogenic
Disease	Disproportionate short-limb short stature Narrow chest
Variation	info
Gene	COL2A1
CLNDBN	Disproportionate short-limb short stature Narrow chest
Reversed	1
HGVS	NC_000012.11:g.48370314C>G
CLNSRC
CLNACC	RCV000415337.1,