rs312262844

Orientation

plus

Stabilized

plus

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

Make rs312262844(-;-)

Make rs312262844(-;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

13746800

Gene

OFD1

is a	snp
is	mentioned by
dbSNP	rs312262844
dbSNP (classic)	rs312262844
ClinGen	rs312262844
ebi	rs312262844
HLI	rs312262844
Exac	rs312262844
Gnomad	rs312262844
Varsome	rs312262844
LitVar	rs312262844
Map	rs312262844
PheGenI	rs312262844
Biobank	rs312262844
1000 genomes	rs312262844
hgdp	rs312262844
ensembl	rs312262844
geneview	rs312262844
scholar	rs312262844
google	rs312262844
pharmgkb	rs312262844
gwascentral	rs312262844
openSNP	rs312262844
23andMe	rs312262844
SNPshot	rs312262844
SNPdbe	rs312262844
MSV3d	rs312262844
GWAS Ctlg	rs312262844

Max Magnitude

0

ClinVar
Risk	rs312262844(-;-)
Alt	rs312262844(-;-)
Reference	Rs312262844(C;C)
Significance	Pathogenic
Disease	Oral-facial-digital syndrome
Variation	info
Gene	OFD1
CLNDBN	Oral-facial-digital syndrome
Reversed	0
HGVS	NC_000023.10:g.13764919delC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034037.2,