rs2229989

Orientation

plus

Stabilized

plus

Make rs2229989(C;T)

Make rs2229989(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

72122794

Gene

SOX9

is a	snp
is	mentioned by
dbSNP	rs2229989
dbSNP (classic)	rs2229989
ClinGen	rs2229989
ebi	rs2229989
HLI	rs2229989
Exac	rs2229989
Gnomad	rs2229989
Varsome	rs2229989
LitVar	rs2229989
Map	rs2229989
PheGenI	rs2229989
Biobank	rs2229989
1000 genomes	rs2229989
hgdp	rs2229989
ensembl	rs2229989
geneview	rs2229989
scholar	rs2229989
google	rs2229989
pharmgkb	rs2229989
gwascentral	rs2229989
openSNP	rs2229989
23andMe	rs2229989
SNPshot	rs2229989
SNPdbe	rs2229989
MSV3d	rs2229989
GWAS Ctlg	rs2229989

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs2229989(G;G) rs2229989(T;T)
Alt	rs2229989(G;G) rs2229989(T;T)
Reference	Rs2229989(C;C)
Significance	Pathogenic
Disease	Camptomelic dysplasia not specified
Variation	info
Gene	SOX9 FLJ37644
CLNDBN	Camptomelic dysplasia not specified
Reversed	0
HGVS	NC_000017.10:g.70118935C>G; NC_000017.10:g.70118935C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000224991.2, RCV000278794.1, RCV000020284.2, RCV000294198.1,