rs312262861

Orientation

plus

Stabilized

plus

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

Make rs312262861(A;G)

Make rs312262861(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

13753366

Gene

OFD1

is a	snp
is	mentioned by
dbSNP	rs312262861
dbSNP (classic)	rs312262861
ClinGen	rs312262861
ebi	rs312262861
HLI	rs312262861
Exac	rs312262861
Gnomad	rs312262861
Varsome	rs312262861
LitVar	rs312262861
Map	rs312262861
PheGenI	rs312262861
Biobank	rs312262861
1000 genomes	rs312262861
hgdp	rs312262861
ensembl	rs312262861
geneview	rs312262861
scholar	rs312262861
google	rs312262861
pharmgkb	rs312262861
gwascentral	rs312262861
openSNP	rs312262861
23andMe	rs312262861
SNPshot	rs312262861
SNPdbe	rs312262861
MSV3d	rs312262861
GWAS Ctlg	rs312262861

Max Magnitude

0

ClinVar
Risk	rs312262861(G;G) rs312262861(T;T)
Alt	rs312262861(G;G) rs312262861(T;T)
Reference	Rs312262861(A;A)
Significance	Pathogenic
Disease	Oral-facial-digital syndrome
Variation	info
Gene	OFD1
CLNDBN	Oral-facial-digital syndrome
Reversed	0
HGVS	NC_000023.10:g.13771485A>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000033952.2,

[PMID 18546297] Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.