rs201662623
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 9 | Orofaciodigital syndrome likely |
(C;T) | 3 | Carrier of an orofaciodigital mutation |
(T;T) | 0 | common/normal |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 63404389 |
Gene | WDPCP |
is a | snp |
is | mentioned by |
dbSNP | rs201662623 |
dbSNP (classic) | rs201662623 |
ClinGen | rs201662623 |
ebi | rs201662623 |
HLI | rs201662623 |
Exac | rs201662623 |
Gnomad | rs201662623 |
Varsome | rs201662623 |
LitVar | rs201662623 |
Map | rs201662623 |
PheGenI | rs201662623 |
Biobank | rs201662623 |
1000 genomes | rs201662623 |
hgdp | rs201662623 |
ensembl | rs201662623 |
geneview | rs201662623 |
scholar | rs201662623 |
rs201662623 | |
pharmgkb | rs201662623 |
gwascentral | rs201662623 |
openSNP | rs201662623 |
23andMe | rs201662623 |
SNPshot | rs201662623 |
SNPdbe | rs201662623 |
MSV3d | rs201662623 |
GWAS Ctlg | rs201662623 |
Max Magnitude | 9 |
see [PMID 27158779]
ClinVar | |
---|---|
Risk | Rs201662623(C;C) |
Alt | Rs201662623(C;C) |
Reference | Rs201662623(T;T) |
Significance | Unknown |
Disease | Bardet-Biedl syndrome |
Variation | info |
Gene | WDPCP |
CLNDBN | Bardet-Biedl syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.63631524T>C |
CLNSRC | |
CLNACC | RCV000402624.1, |