rs727503781
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs727503781(-;-) |
Make rs727503781(-;AT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 63437501 |
Gene | WDPCP |
is a | snp |
is | mentioned by |
dbSNP | rs727503781 |
dbSNP (classic) | rs727503781 |
ClinGen | rs727503781 |
ebi | rs727503781 |
HLI | rs727503781 |
Exac | rs727503781 |
Gnomad | rs727503781 |
Varsome | rs727503781 |
LitVar | rs727503781 |
Map | rs727503781 |
PheGenI | rs727503781 |
Biobank | rs727503781 |
1000 genomes | rs727503781 |
hgdp | rs727503781 |
ensembl | rs727503781 |
geneview | rs727503781 |
scholar | rs727503781 |
rs727503781 | |
pharmgkb | rs727503781 |
gwascentral | rs727503781 |
openSNP | rs727503781 |
23andMe | rs727503781 |
SNPshot | rs727503781 |
SNPdbe | rs727503781 |
MSV3d | rs727503781 |
GWAS Ctlg | rs727503781 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503781(-;-) |
Alt | rs727503781(-;-) |
Reference | Rs727503781(AT;AT) |
Significance | Pathogenic |
Disease | Orstavik Lindemann Solberg syndrome |
Variation | info |
Gene | WDPCP |
CLNDBN | Orstavik Lindemann Solberg syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.63664635_63664636delAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000150108.4, |