rs200322968

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of an orofaciodigital mutation
(T;T)	9	Orofaciodigital syndrome likely

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

63492856

Gene

WDPCP

is a	snp
is	mentioned by
dbSNP	rs200322968
dbSNP (classic)	rs200322968
ClinGen	rs200322968
ebi	rs200322968
HLI	rs200322968
Exac	rs200322968
Gnomad	rs200322968
Varsome	rs200322968
LitVar	rs200322968
Map	rs200322968
PheGenI	rs200322968
Biobank	rs200322968
1000 genomes	rs200322968
hgdp	rs200322968
ensembl	rs200322968
geneview	rs200322968
scholar	rs200322968
google	rs200322968
pharmgkb	rs200322968
gwascentral	rs200322968
openSNP	rs200322968
23andMe	rs200322968
SNPshot	rs200322968
SNPdbe	rs200322968
MSV3d	rs200322968
GWAS Ctlg	rs200322968

Max Magnitude

9

see [PMID 27158779]

ClinVar
Risk	Rs200322968(T;T)
Alt	Rs200322968(T;T)
Reference	Rs200322968(C;C)
Significance	Pathogenic
Disease	Orstavik Lindemann Solberg syndrome
Variation	info
Gene	WDPCP
CLNDBN	Orstavik Lindemann Solberg syndrome
Reversed	0
HGVS	NC_000002.11:g.63719990C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000150109.4,