rs587777330

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(AAT;AAT)	0	common in clinvar
(ATT;ATT)	0	common in clinvar

Make rs587777330(-;-)

Make rs587777330(-;ATT)

Reference

GRCh38 38.1/142

Chromosome

X

Position

13716098

Gene

TRAPPC2

is a	snp
is	mentioned by
dbSNP	rs587777330
dbSNP (classic)	rs587777330
ClinGen	rs587777330
ebi	rs587777330
HLI	rs587777330
Exac	rs587777330
Gnomad	rs587777330
Varsome	rs587777330
LitVar	rs587777330
Map	rs587777330
PheGenI	rs587777330
Biobank	rs587777330
1000 genomes	rs587777330
hgdp	rs587777330
ensembl	rs587777330
geneview	rs587777330
scholar	rs587777330
google	rs587777330
pharmgkb	rs587777330
gwascentral	rs587777330
openSNP	rs587777330
23andMe	rs587777330
SNPshot	rs587777330
SNPdbe	rs587777330
MSV3d	rs587777330
GWAS Ctlg	rs587777330

Max Magnitude

0

ClinVar
Risk	Rs587777330(ATT;ATT) rs587777330(-;-)
Alt	Rs587777330(ATT;ATT) rs587777330(-;-)
Reference	Rs587777330(AAT;AAT)
Significance	Pathogenic
Disease	Spondyloepiphyseal dysplasia tarda
Variation	info
Gene	TRAPPC2 OFD1
CLNDBN	Spondyloepiphyseal dysplasia tarda
Reversed	1
HGVS	NC_000023.10:g.13734217_13734219delATT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000114971.2,