rs312262811

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GAGTG;GAGTG)	0	common in clinvar
(I;I)	0	common genotype
(TGGAG;TGGAG)	0	common in clinvar

Make rs312262811(-;-)

Make rs312262811(-;TGGAG)

Reference

GRCh38 38.1/141

Chromosome

X

Position

13736528

Gene	OFD1, TRAPPC2

is a	snp
is	mentioned by
dbSNP	rs312262811
dbSNP (classic)	rs312262811
ClinGen	rs312262811
ebi	rs312262811
HLI	rs312262811
Exac	rs312262811
Gnomad	rs312262811
Varsome	rs312262811
LitVar	rs312262811
Map	rs312262811
PheGenI	rs312262811
Biobank	rs312262811
1000 genomes	rs312262811
hgdp	rs312262811
ensembl	rs312262811
geneview	rs312262811
scholar	rs312262811
google	rs312262811
pharmgkb	rs312262811
gwascentral	rs312262811
openSNP	rs312262811
23andMe	rs312262811
SNPshot	rs312262811
SNPdbe	rs312262811
MSV3d	rs312262811
GWAS Ctlg	rs312262811

Max Magnitude

0

ClinVar
Risk	rs312262811(-;-)
Alt	rs312262811(-;-)
Reference	Rs312262811(GAGTG;GAGTG)
Significance	Pathogenic
Disease	Oral-facial-digital syndrome
Variation	info
Gene	TRAPPC2 OFD1
CLNDBN	Oral-facial-digital syndrome
Reversed	0
HGVS	NC_000023.10:g.13754647_13754651delTGGAG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000033983.2,