rs121908620

Orientation

plus

Stabilized

plus

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

Make rs121908620(C;C)

Make rs121908620(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

72007888

Gene

CHST3

is a	snp
is	mentioned by
dbSNP	rs121908620
dbSNP (classic)	rs121908620
ClinGen	rs121908620
ebi	rs121908620
HLI	rs121908620
Exac	rs121908620
Gnomad	rs121908620
Varsome	rs121908620
LitVar	rs121908620
Map	rs121908620
PheGenI	rs121908620
Biobank	rs121908620
1000 genomes	rs121908620
hgdp	rs121908620
ensembl	rs121908620
geneview	rs121908620
scholar	rs121908620
google	rs121908620
pharmgkb	rs121908620
gwascentral	rs121908620
openSNP	rs121908620
23andMe	rs121908620
SNPshot	rs121908620
SNPdbe	rs121908620
MSV3d	rs121908620
GWAS Ctlg	rs121908620

Max Magnitude

0

OMIM	603799
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908620(C;C)
Alt	rs121908620(C;C)
Reference	Rs121908620(T;T)
Significance	Pathogenic
Disease	Spondyloepiphyseal dysplasia with congenital joint dislocations
Variation	info
Gene	CHST3
CLNDBN	Spondyloepiphyseal dysplasia with congenital joint dislocations
Reversed	0
HGVS	NC_000010.10:g.73767646T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006419.3,