rs145873635
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs145873635(A;A) |
Make rs145873635(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 18075541 |
Gene | ASAH1 |
is a | snp |
is | mentioned by |
dbSNP | rs145873635 |
dbSNP (classic) | rs145873635 |
ClinGen | rs145873635 |
ebi | rs145873635 |
HLI | rs145873635 |
Exac | rs145873635 |
Gnomad | rs145873635 |
Varsome | rs145873635 |
LitVar | rs145873635 |
Map | rs145873635 |
PheGenI | rs145873635 |
Biobank | rs145873635 |
1000 genomes | rs145873635 |
hgdp | rs145873635 |
ensembl | rs145873635 |
geneview | rs145873635 |
scholar | rs145873635 |
rs145873635 | |
pharmgkb | rs145873635 |
gwascentral | rs145873635 |
openSNP | rs145873635 |
23andMe | rs145873635 |
SNPshot | rs145873635 |
SNPdbe | rs145873635 |
MSV3d | rs145873635 |
GWAS Ctlg | rs145873635 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145873635(A;A) |
Alt | rs145873635(A;A) |
Reference | Rs145873635(G;G) |
Significance | Pathogenic |
Disease | Jankovic Rivera syndrome |
Variation | info |
Gene | ASAH1 |
CLNDBN | Jankovic Rivera syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.17933050G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000029199.4, |