rs587776753

Orientation

plus

Stabilized

minus

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

Make rs587776753(A;G)

Make rs587776753(G;G)

Reference

GRCh38 38.1/142

Chromosome

X

Position

13716530

Gene

TRAPPC2

is a	snp
is	mentioned by
dbSNP	rs587776753
dbSNP (classic)	rs587776753
ClinGen	rs587776753
ebi	rs587776753
HLI	rs587776753
Exac	rs587776753
Gnomad	rs587776753
Varsome	rs587776753
LitVar	rs587776753
Map	rs587776753
PheGenI	rs587776753
Biobank	rs587776753
1000 genomes	rs587776753
hgdp	rs587776753
ensembl	rs587776753
geneview	rs587776753
scholar	rs587776753
google	rs587776753
pharmgkb	rs587776753
gwascentral	rs587776753
openSNP	rs587776753
23andMe	rs587776753
SNPshot	rs587776753
SNPdbe	rs587776753
MSV3d	rs587776753
GWAS Ctlg	rs587776753

Max Magnitude

0

ClinVar
Risk	Rs587776753(A;A) rs587776753(G;G)
Alt	Rs587776753(A;A) rs587776753(G;G)
Reference	Rs587776753(T;T)
Significance	Pathogenic
Disease	Spondyloepiphyseal dysplasia tarda
Variation	info
Gene	TRAPPC2 OFD1
CLNDBN	Spondyloepiphyseal dysplasia tarda
Reversed	1
HGVS	NC_000023.10:g.13734649A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012272.12,