rs312262865

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AATT;AATT)	0	common in clinvar
(TTAA;TTAA)	0	common in clinvar

Make rs312262865(-;-)

Make rs312262865(-;AATT)

Reference

GRCh38 38.1/141

Chromosome

X

Position

13755129

Gene

OFD1

is a	snp
is	mentioned by
dbSNP	rs312262865
dbSNP (classic)	rs312262865
ClinGen	rs312262865
ebi	rs312262865
HLI	rs312262865
Exac	rs312262865
Gnomad	rs312262865
Varsome	rs312262865
LitVar	rs312262865
Map	rs312262865
PheGenI	rs312262865
Biobank	rs312262865
1000 genomes	rs312262865
hgdp	rs312262865
ensembl	rs312262865
geneview	rs312262865
scholar	rs312262865
google	rs312262865
pharmgkb	rs312262865
gwascentral	rs312262865
openSNP	rs312262865
23andMe	rs312262865
SNPshot	rs312262865
SNPdbe	rs312262865
MSV3d	rs312262865
GWAS Ctlg	rs312262865

Max Magnitude

0

Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.

ClinVar
Risk	rs312262865(-;-)
Alt	rs312262865(-;-)
Reference	Rs312262865(TTAA;TTAA)
Significance	Pathogenic
Disease	Oral-facial-digital syndrome
Variation	info
Gene	OFD1
CLNDBN	Oral-facial-digital syndrome
Reversed	0
HGVS	NC_000023.10:g.13773248_13773251delAATT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000033961.2,