rs397704728
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397704728(G;T) |
Make rs397704728(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 63492941 |
Gene | WDPCP |
is a | snp |
is | mentioned by |
dbSNP | rs397704728 |
dbSNP (classic) | rs397704728 |
ClinGen | rs397704728 |
ebi | rs397704728 |
HLI | rs397704728 |
Exac | rs397704728 |
Gnomad | rs397704728 |
Varsome | rs397704728 |
LitVar | rs397704728 |
Map | rs397704728 |
PheGenI | rs397704728 |
Biobank | rs397704728 |
1000 genomes | rs397704728 |
hgdp | rs397704728 |
ensembl | rs397704728 |
geneview | rs397704728 |
scholar | rs397704728 |
rs397704728 | |
pharmgkb | rs397704728 |
gwascentral | rs397704728 |
openSNP | rs397704728 |
23andMe | rs397704728 |
SNPshot | rs397704728 |
SNPdbe | rs397704728 |
MSV3d | rs397704728 |
GWAS Ctlg | rs397704728 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397704728(T;T) |
Alt | rs397704728(T;T) |
Reference | Rs397704728(G;G) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome 15 |
Variation | info |
Gene | WDPCP |
CLNDBN | Bardet-Biedl syndrome 15 |
Reversed | 1 |
HGVS | NC_000002.11:g.63720075C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000062.6, |