rs312262827

Orientation

plus

Stabilized

plus

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

Make rs312262827(A;A)

Make rs312262827(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

13739032

Gene

OFD1

is a	snp
is	mentioned by
dbSNP	rs312262827
dbSNP (classic)	rs312262827
ClinGen	rs312262827
ebi	rs312262827
HLI	rs312262827
Exac	rs312262827
Gnomad	rs312262827
Varsome	rs312262827
LitVar	rs312262827
Map	rs312262827
PheGenI	rs312262827
Biobank	rs312262827
1000 genomes	rs312262827
hgdp	rs312262827
ensembl	rs312262827
geneview	rs312262827
scholar	rs312262827
google	rs312262827
pharmgkb	rs312262827
gwascentral	rs312262827
openSNP	rs312262827
23andMe	rs312262827
SNPshot	rs312262827
SNPdbe	rs312262827
MSV3d	rs312262827
GWAS Ctlg	rs312262827

Max Magnitude

0

ClinVar
Risk	rs312262827(A;A)
Alt	rs312262827(A;A)
Reference	Rs312262827(G;G)
Significance	Pathogenic
Disease	Oral-facial-digital syndrome
Variation	info
Gene	OFD1
CLNDBN	Oral-facial-digital syndrome
Reversed	0
HGVS	NC_000023.10:g.13757151G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034019.2,