rs312262810

Orientation

plus

Stabilized

plus

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

Make rs312262810(C;T)

Make rs312262810(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

13736487

Gene	OFD1, TRAPPC2

is a	snp
is	mentioned by
dbSNP	rs312262810
dbSNP (classic)	rs312262810
ClinGen	rs312262810
ebi	rs312262810
HLI	rs312262810
Exac	rs312262810
Gnomad	rs312262810
Varsome	rs312262810
LitVar	rs312262810
Map	rs312262810
PheGenI	rs312262810
Biobank	rs312262810
1000 genomes	rs312262810
hgdp	rs312262810
ensembl	rs312262810
geneview	rs312262810
scholar	rs312262810
google	rs312262810
pharmgkb	rs312262810
gwascentral	rs312262810
openSNP	rs312262810
23andMe	rs312262810
SNPshot	rs312262810
SNPdbe	rs312262810
MSV3d	rs312262810
GWAS Ctlg	rs312262810

Max Magnitude

0

ClinVar
Risk	rs312262810(T;T)
Alt	rs312262810(T;T)
Reference	Rs312262810(C;C)
Significance	Pathogenic
Disease	Oral-facial-digital syndrome
Variation	info
Gene	TRAPPC2 OFD1
CLNDBN	Oral-facial-digital syndrome
Reversed	0
HGVS	NC_000023.10:g.13754606C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000033965.2,