rs587776749

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(CA;CA)	0	common in clinvar
(I;I)	0	common genotype
(TG;TG)	0	common in clinvar
(TGG;TGG)	0	common in clinvar

Make rs587776749(-;-)

Make rs587776749(-;CA)

Reference

GRCh38 38.1/142

Chromosome

X

Position

13716580

Gene

TRAPPC2

is a	snp
is	mentioned by
dbSNP	rs587776749
dbSNP (classic)	rs587776749
ClinGen	rs587776749
ebi	rs587776749
HLI	rs587776749
Exac	rs587776749
Gnomad	rs587776749
Varsome	rs587776749
LitVar	rs587776749
Map	rs587776749
PheGenI	rs587776749
Biobank	rs587776749
1000 genomes	rs587776749
hgdp	rs587776749
ensembl	rs587776749
geneview	rs587776749
scholar	rs587776749
google	rs587776749
pharmgkb	rs587776749
gwascentral	rs587776749
openSNP	rs587776749
23andMe	rs587776749
SNPshot	rs587776749
SNPdbe	rs587776749
MSV3d	rs587776749
GWAS Ctlg	rs587776749

Max Magnitude

0

ClinVar
Risk	Rs587776749(CA;CA) rs587776749(-;-)
Alt	Rs587776749(CA;CA) rs587776749(-;-)
Reference	Rs587776749(TG;TG)
Significance	Pathogenic
Disease	Spondyloepiphyseal dysplasia tarda
Variation	info
Gene	TRAPPC2 OFD1
CLNDBN	Spondyloepiphyseal dysplasia tarda
Reversed	1
HGVS	NC_000023.10:g.13734699_13734700delCA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012264.25,