rs312262851

Orientation

plus

Stabilized

plus

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

Make rs312262851(C;T)

Make rs312262851(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

13746948

Gene

OFD1

is a	snp
is	mentioned by
dbSNP	rs312262851
dbSNP (classic)	rs312262851
ClinGen	rs312262851
ebi	rs312262851
HLI	rs312262851
Exac	rs312262851
Gnomad	rs312262851
Varsome	rs312262851
LitVar	rs312262851
Map	rs312262851
PheGenI	rs312262851
Biobank	rs312262851
1000 genomes	rs312262851
hgdp	rs312262851
ensembl	rs312262851
geneview	rs312262851
scholar	rs312262851
google	rs312262851
pharmgkb	rs312262851
gwascentral	rs312262851
openSNP	rs312262851
23andMe	rs312262851
SNPshot	rs312262851
SNPdbe	rs312262851
MSV3d	rs312262851
GWAS Ctlg	rs312262851

Max Magnitude

0

ClinVar
Risk	rs312262851(T;T)
Alt	rs312262851(T;T)
Reference	Rs312262851(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.13765067C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034045.2,