rs769327864
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs769327864(A;A) |
Make rs769327864(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 45835591 |
Gene | LZTFL1 |
is a | snp |
is | mentioned by |
dbSNP | rs769327864 |
dbSNP (classic) | rs769327864 |
ClinGen | rs769327864 |
ebi | rs769327864 |
HLI | rs769327864 |
Exac | rs769327864 |
Gnomad | rs769327864 |
Varsome | rs769327864 |
LitVar | rs769327864 |
Map | rs769327864 |
PheGenI | rs769327864 |
Biobank | rs769327864 |
1000 genomes | rs769327864 |
hgdp | rs769327864 |
ensembl | rs769327864 |
geneview | rs769327864 |
scholar | rs769327864 |
rs769327864 | |
pharmgkb | rs769327864 |
gwascentral | rs769327864 |
openSNP | rs769327864 |
23andMe | rs769327864 |
SNPshot | rs769327864 |
SNPdbe | rs769327864 |
MSV3d | rs769327864 |
GWAS Ctlg | rs769327864 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769327864(A;A) |
Alt | rs769327864(A;A) |
Reference | Rs769327864(G;G) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome 17 |
Variation | info |
Gene | LZTFL1 |
CLNDBN | Bardet-Biedl syndrome 17 |
Reversed | 0 |
HGVS | NC_000003.11:g.45877083G>A |
CLNSRC | |
CLNACC | RCV000177316.1, |