rs122460150

Orientation

plus

Stabilized

plus

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

Make rs122460150(A;C)

Make rs122460150(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

13756659

Gene

OFD1

is a	snp
is	mentioned by
dbSNP	rs122460150
dbSNP (classic)	rs122460150
ClinGen	rs122460150
ebi	rs122460150
HLI	rs122460150
Exac	rs122460150
Gnomad	rs122460150
Varsome	rs122460150
LitVar	rs122460150
Map	rs122460150
PheGenI	rs122460150
Biobank	rs122460150
1000 genomes	rs122460150
hgdp	rs122460150
ensembl	rs122460150
geneview	rs122460150
scholar	rs122460150
google	rs122460150
pharmgkb	rs122460150
gwascentral	rs122460150
openSNP	rs122460150
23andMe	rs122460150
SNPshot	rs122460150
SNPdbe	rs122460150
MSV3d	rs122460150
GWAS Ctlg	rs122460150

Max Magnitude

0

OMIM	300170
Desc
Variant	0001
Related	also

ClinVar
Risk	rs122460150(C;C)
Alt	rs122460150(C;C)
Reference	Rs122460150(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.13774778A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012293.25,