rs766602179
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs766602179(-;-) |
Make rs766602179(-;G) |
Make rs766602179(G;G) |
Reference | GRCh38.p7 38.3/151 |
Chromosome | 11 |
Position | 18296885 |
Gene | HPS5 |
is a | snp |
is | mentioned by |
dbSNP | rs766602179 |
dbSNP (classic) | rs766602179 |
ClinGen | rs766602179 |
ebi | rs766602179 |
HLI | rs766602179 |
Exac | rs766602179 |
Gnomad | rs766602179 |
Varsome | rs766602179 |
LitVar | rs766602179 |
Map | rs766602179 |
PheGenI | rs766602179 |
Biobank | rs766602179 |
1000 genomes | rs766602179 |
hgdp | rs766602179 |
ensembl | rs766602179 |
geneview | rs766602179 |
scholar | rs766602179 |
rs766602179 | |
pharmgkb | rs766602179 |
gwascentral | rs766602179 |
openSNP | rs766602179 |
23andMe | rs766602179 |
SNPshot | rs766602179 |
SNPdbe | rs766602179 |
MSV3d | rs766602179 |
GWAS Ctlg | rs766602179 |
Max Magnitude | 0 |
aka NM_181507.1(HPS5):c.1423delC or (p.Leu475Serfs)
OMIM pathogenic variant