rs797044995
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797044995(A;A) |
Make rs797044995(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 84648537 |
Gene | WDR73 |
is a | snp |
is | mentioned by |
dbSNP | rs797044995 |
dbSNP (classic) | rs797044995 |
ClinGen | rs797044995 |
ebi | rs797044995 |
HLI | rs797044995 |
Exac | rs797044995 |
Gnomad | rs797044995 |
Varsome | rs797044995 |
LitVar | rs797044995 |
Map | rs797044995 |
PheGenI | rs797044995 |
Biobank | rs797044995 |
1000 genomes | rs797044995 |
hgdp | rs797044995 |
ensembl | rs797044995 |
geneview | rs797044995 |
scholar | rs797044995 |
rs797044995 | |
pharmgkb | rs797044995 |
gwascentral | rs797044995 |
openSNP | rs797044995 |
23andMe | rs797044995 |
SNPshot | rs797044995 |
SNPdbe | rs797044995 |
MSV3d | rs797044995 |
GWAS Ctlg | rs797044995 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044995(A;A) |
Alt | rs797044995(A;A) |
Reference | Rs797044995(G;G) |
Significance | Pathogenic |
Disease | Galloway-Mowat syndrome |
Variation | info |
Gene | WDR73 |
CLNDBN | Galloway-Mowat syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.85191768C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190493.2, |