rs746032983

Orientation

plus

Stabilized

plus

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

Make rs746032983(C;T)

Make rs746032983(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

13734121

Gene	OFD1, TRAPPC2

is a	snp
is	mentioned by
dbSNP	rs746032983
dbSNP (classic)	rs746032983
ClinGen	rs746032983
ebi	rs746032983
HLI	rs746032983
Exac	rs746032983
Gnomad	rs746032983
Varsome	rs746032983
LitVar	rs746032983
Map	rs746032983
PheGenI	rs746032983
Biobank	rs746032983
1000 genomes	rs746032983
hgdp	rs746032983
ensembl	rs746032983
geneview	rs746032983
scholar	rs746032983
google	rs746032983
pharmgkb	rs746032983
gwascentral	rs746032983
openSNP	rs746032983
23andMe	rs746032983
SNPshot	rs746032983
SNPdbe	rs746032983
MSV3d	rs746032983
GWAS Ctlg	rs746032983

Max Magnitude

0

ClinVar
Risk	rs746032983(T;T)
Alt	rs746032983(T;T)
Reference	Rs746032983(C;C)
Significance	Probable-Pathogenic
Disease	Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia
Variation	info
Gene	TRAPPC2 OFD1
CLNDBN	Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia
Reversed	0
HGVS	NC_000023.10:g.13752240C>T
CLNSRC
CLNACC	RCV000194298.1, RCV000326467.1,