rs539612316
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs539612316(A;A) |
Make rs539612316(A;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 73449346 |
Gene | ALMS1 |
is a | snp |
is | mentioned by |
dbSNP | rs539612316 |
dbSNP (classic) | rs539612316 |
ClinGen | rs539612316 |
ebi | rs539612316 |
HLI | rs539612316 |
Exac | rs539612316 |
Gnomad | rs539612316 |
Varsome | rs539612316 |
LitVar | rs539612316 |
Map | rs539612316 |
PheGenI | rs539612316 |
Biobank | rs539612316 |
1000 genomes | rs539612316 |
hgdp | rs539612316 |
ensembl | rs539612316 |
geneview | rs539612316 |
scholar | rs539612316 |
rs539612316 | |
pharmgkb | rs539612316 |
gwascentral | rs539612316 |
openSNP | rs539612316 |
23andMe | rs539612316 |
SNPshot | rs539612316 |
SNPdbe | rs539612316 |
MSV3d | rs539612316 |
GWAS Ctlg | rs539612316 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs539612316(A;A) |
Alt | rs539612316(A;A) |
Reference | Rs539612316(T;T) |
Significance | Pathogenic |
Disease | Alstrom syndrome |
Variation | info |
Gene | ALMS1 |
CLNDBN | Alstrom syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.73676473T>A |
CLNSRC | |
CLNACC | RCV000210366.1, |