rs587776754

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(I;I)	0	common genotype
(T;T)	0	common in clinvar

Make rs587776754(-;-)

Make rs587776754(-;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

13714443

Gene

TRAPPC2

is a	snp
is	mentioned by
dbSNP	rs587776754
dbSNP (classic)	rs587776754
ClinGen	rs587776754
ebi	rs587776754
HLI	rs587776754
Exac	rs587776754
Gnomad	rs587776754
Varsome	rs587776754
LitVar	rs587776754
Map	rs587776754
PheGenI	rs587776754
Biobank	rs587776754
1000 genomes	rs587776754
hgdp	rs587776754
ensembl	rs587776754
geneview	rs587776754
scholar	rs587776754
google	rs587776754
pharmgkb	rs587776754
gwascentral	rs587776754
openSNP	rs587776754
23andMe	rs587776754
SNPshot	rs587776754
SNPdbe	rs587776754
MSV3d	rs587776754
GWAS Ctlg	rs587776754

Max Magnitude

0

ClinVar
Risk	Rs587776754(T;T) rs587776754(-;-)
Alt	Rs587776754(T;T) rs587776754(-;-)
Reference	Rs587776754(A;A)
Significance	Pathogenic
Disease	Spondyloepiphyseal dysplasia tarda
Variation	info
Gene	TRAPPC2 OFD1
CLNDBN	Spondyloepiphyseal dysplasia tarda
Reversed	1
HGVS	NC_000023.10:g.13732562delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012273.13,