rs137853130

Orientation

plus

Stabilized

plus

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

Make rs137853130(A;A)

Make rs137853130(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

72122759

Gene	SOX9, SOX9-AS1

is a	snp
is	mentioned by
dbSNP	rs137853130
dbSNP (classic)	rs137853130
ClinGen	rs137853130
ebi	rs137853130
HLI	rs137853130
Exac	rs137853130
Gnomad	rs137853130
Varsome	rs137853130
LitVar	rs137853130
Map	rs137853130
PheGenI	rs137853130
Biobank	rs137853130
1000 genomes	rs137853130
hgdp	rs137853130
ensembl	rs137853130
geneview	rs137853130
scholar	rs137853130
google	rs137853130
pharmgkb	rs137853130
gwascentral	rs137853130
openSNP	rs137853130
23andMe	rs137853130
SNPshot	rs137853130
SNPdbe	rs137853130
MSV3d	rs137853130
GWAS Ctlg	rs137853130

Max Magnitude

0

OMIM	608160
Desc
Variant	0012
Related	also

ClinVar
Risk	rs137853130(A;A)
Alt	rs137853130(A;A)
Reference	Rs137853130(G;G)
Significance	Pathogenic
Disease	Campomelic dysplasia with autosomal sex reversal
Variation	info
Gene	SOX9 FLJ37644 SOX9-AS1
CLNDBN	Campomelic dysplasia with autosomal sex reversal
Reversed	0
HGVS	NC_000017.10:g.70118900G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002624.3,