rs1057518669

Orientation

plus

Stabilized

plus

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

Make rs1057518669(C;C)

Make rs1057518669(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

72124284

Gene

SOX9

is a	snp
is	mentioned by
dbSNP	rs1057518669
dbSNP (classic)	rs1057518669
ClinGen	rs1057518669
ebi	rs1057518669
HLI	rs1057518669
Exac	rs1057518669
Gnomad	rs1057518669
Varsome	rs1057518669
LitVar	rs1057518669
Map	rs1057518669
PheGenI	rs1057518669
Biobank	rs1057518669
1000 genomes	rs1057518669
hgdp	rs1057518669
ensembl	rs1057518669
geneview	rs1057518669
scholar	rs1057518669
google	rs1057518669
pharmgkb	rs1057518669
gwascentral	rs1057518669
openSNP	rs1057518669
23andMe	rs1057518669
SNPshot	rs1057518669
SNPdbe	rs1057518669
MSV3d	rs1057518669
GWAS Ctlg	rs1057518669

Max Magnitude

0

ClinVar
Risk	rs1057518669(C;C)
Alt	rs1057518669(C;C)
Reference	Rs1057518669(T;T)
Significance	Probable-Pathogenic
Disease	Camptomelic dysplasia
Variation	info
Gene	SOX9
CLNDBN	Camptomelic dysplasia
Reversed	0
HGVS	NC_000017.10:g.70120425T>C
CLNSRC
CLNACC	RCV000415154.1,