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rs200322968

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of an orofaciodigital mutation
(T;T) 9 Orofaciodigital syndrome likely
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position63492856
GeneWDPCP
is asnp
is mentioned by
dbSNPrs200322968
ebirs200322968
HLIrs200322968
Exacrs200322968
Varsomers200322968
Maprs200322968
PheGenIrs200322968
hapmaprs200322968
1000 genomesrs200322968
hgdprs200322968
ensemblrs200322968
gopubmedrs200322968
geneviewrs200322968
scholarrs200322968
googlers200322968
pharmgkbrs200322968
gwascentralrs200322968
openSNPrs200322968
23andMers200322968
23andMe allrs200322968
SNP Nexus

SNPshotrs200322968
SNPdbers200322968
MSV3drs200322968
GWAS Ctlgrs200322968
Max Magnitude9

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,