rs137853128

Orientation

plus

Stabilized

plus

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

Make rs137853128(A;A)

Make rs137853128(A;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

72121618

Gene	SOX9, SOX9-AS1

is a	snp
is	mentioned by
dbSNP	rs137853128
dbSNP (classic)	rs137853128
ClinGen	rs137853128
ebi	rs137853128
HLI	rs137853128
Exac	rs137853128
Gnomad	rs137853128
Varsome	rs137853128
LitVar	rs137853128
Map	rs137853128
PheGenI	rs137853128
Biobank	rs137853128
1000 genomes	rs137853128
hgdp	rs137853128
ensembl	rs137853128
geneview	rs137853128
scholar	rs137853128
google	rs137853128
pharmgkb	rs137853128
gwascentral	rs137853128
openSNP	rs137853128
23andMe	rs137853128
SNPshot	rs137853128
SNPdbe	rs137853128
MSV3d	rs137853128
GWAS Ctlg	rs137853128

Max Magnitude

0

OMIM	608160
Desc
Variant	0009
Related	also

ClinVar
Risk	rs137853128(A;A)
Alt	rs137853128(A;A)
Reference	Rs137853128(C;C)
Significance	Pathogenic
Disease	Acampomelic campomelic dysplasia
Variation	info
Gene	SOX9 SOX9-AS1 FLJ37644
CLNDBN	Acampomelic campomelic dysplasia
Reversed	0
HGVS	NC_000017.10:g.70117759C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002621.3,