rs1057518693

Orientation

plus

Stabilized

plus

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

Make rs1057518693(C;C)

Make rs1057518693(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

62821532

Gene

COL9A3

is a	snp
is	mentioned by
dbSNP	rs1057518693
dbSNP (classic)	rs1057518693
ClinGen	rs1057518693
ebi	rs1057518693
HLI	rs1057518693
Exac	rs1057518693
Gnomad	rs1057518693
Varsome	rs1057518693
LitVar	rs1057518693
Map	rs1057518693
PheGenI	rs1057518693
Biobank	rs1057518693
1000 genomes	rs1057518693
hgdp	rs1057518693
ensembl	rs1057518693
geneview	rs1057518693
scholar	rs1057518693
google	rs1057518693
pharmgkb	rs1057518693
gwascentral	rs1057518693
openSNP	rs1057518693
23andMe	rs1057518693
SNPshot	rs1057518693
SNPdbe	rs1057518693
MSV3d	rs1057518693
GWAS Ctlg	rs1057518693

Max Magnitude

0

ClinVar
Risk	rs1057518693(C;C)
Alt	rs1057518693(C;C)
Reference	Rs1057518693(T;T)
Significance	Pathogenic
Disease	Multiple epiphyseal dysplasia 3
Variation	info
Gene	COL9A3
CLNDBN	Multiple epiphyseal dysplasia 3
Reversed	0
HGVS	NC_000020.10:g.61452884T>C
CLNSRC
CLNACC	RCV000415238.1,