rs587776752

Orientation

plus

Stabilized

minus

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

Make rs587776752(C;T)

Make rs587776752(T;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

13719866

Gene

TRAPPC2

is a	snp
is	mentioned by
dbSNP	rs587776752
dbSNP (classic)	rs587776752
ClinGen	rs587776752
ebi	rs587776752
HLI	rs587776752
Exac	rs587776752
Gnomad	rs587776752
Varsome	rs587776752
LitVar	rs587776752
Map	rs587776752
PheGenI	rs587776752
Biobank	rs587776752
1000 genomes	rs587776752
hgdp	rs587776752
ensembl	rs587776752
geneview	rs587776752
scholar	rs587776752
google	rs587776752
pharmgkb	rs587776752
gwascentral	rs587776752
openSNP	rs587776752
23andMe	rs587776752
SNPshot	rs587776752
SNPdbe	rs587776752
MSV3d	rs587776752
GWAS Ctlg	rs587776752

Max Magnitude

0

ClinVar
Risk	Rs587776752(C;C) rs587776752(T;T)
Alt	Rs587776752(C;C) rs587776752(T;T)
Reference	Rs587776752(G;G)
Significance	Pathogenic
Disease	Spondyloepiphyseal dysplasia tarda
Variation	info
Gene	TRAPPC2 OFD1
CLNDBN	Spondyloepiphyseal dysplasia tarda
Reversed	1
HGVS	NC_000023.10:g.13737985C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012268.12,