rs1071645
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1071645(A;A) |
Make rs1071645(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 18071302 |
Gene | ASAH1 |
is a | snp |
is | mentioned by |
dbSNP | rs1071645 |
dbSNP (classic) | rs1071645 |
ClinGen | rs1071645 |
ebi | rs1071645 |
HLI | rs1071645 |
Exac | rs1071645 |
Gnomad | rs1071645 |
Varsome | rs1071645 |
LitVar | rs1071645 |
Map | rs1071645 |
PheGenI | rs1071645 |
Biobank | rs1071645 |
1000 genomes | rs1071645 |
hgdp | rs1071645 |
ensembl | rs1071645 |
geneview | rs1071645 |
scholar | rs1071645 |
rs1071645 | |
pharmgkb | rs1071645 |
gwascentral | rs1071645 |
openSNP | rs1071645 |
23andMe | rs1071645 |
SNPshot | rs1071645 |
SNPdbe | rs1071645 |
MSV3d | rs1071645 |
GWAS Ctlg | rs1071645 |
Merged from | Rs12544854 |
GMAF | 0.4238 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1071645(A;A) |
Alt | rs1071645(A;A) |
Reference | Rs1071645(G;G) |
Significance | Non-pathogenic |
Disease | not specified Farber's lipogranulomatosis |
Variation | info |
Gene | ASAH1 |
CLNDBN | not specified Farber's lipogranulomatosis |
Reversed | 1 |
HGVS | NC_000008.10:g.17928811C>T |
CLNSRC | |
CLNACC | RCV000253040.1, RCV000343910.1, |