rs1057517135
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057517135(-;T) |
Make rs1057517135(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 66531690 |
Gene | BBS1, ZDHHC24 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517135 |
dbSNP (classic) | rs1057517135 |
ClinGen | rs1057517135 |
ebi | rs1057517135 |
HLI | rs1057517135 |
Exac | rs1057517135 |
Gnomad | rs1057517135 |
Varsome | rs1057517135 |
LitVar | rs1057517135 |
Map | rs1057517135 |
PheGenI | rs1057517135 |
Biobank | rs1057517135 |
1000 genomes | rs1057517135 |
hgdp | rs1057517135 |
ensembl | rs1057517135 |
geneview | rs1057517135 |
scholar | rs1057517135 |
rs1057517135 | |
pharmgkb | rs1057517135 |
gwascentral | rs1057517135 |
openSNP | rs1057517135 |
23andMe | rs1057517135 |
SNPshot | rs1057517135 |
SNPdbe | rs1057517135 |
MSV3d | rs1057517135 |
GWAS Ctlg | rs1057517135 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517135(T;T) |
Alt | rs1057517135(T;T) |
Reference | Rs1057517135(-;-) |
Significance | Probable-Pathogenic |
Disease | Bardet-Biedl syndrome |
Variation | info |
Gene | BBS1 ZDHHC24 |
CLNDBN | Bardet-Biedl syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.66299161dupT |
CLNSRC | |
CLNACC | RCV000411939.1, |