rs121917777
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121917777(G;T) |
Make rs121917777(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 66531692 |
Gene | BBS1, ZDHHC24 |
is a | snp |
is | mentioned by |
dbSNP | rs121917777 |
dbSNP (classic) | rs121917777 |
ClinGen | rs121917777 |
ebi | rs121917777 |
HLI | rs121917777 |
Exac | rs121917777 |
Gnomad | rs121917777 |
Varsome | rs121917777 |
LitVar | rs121917777 |
Map | rs121917777 |
PheGenI | rs121917777 |
Biobank | rs121917777 |
1000 genomes | rs121917777 |
hgdp | rs121917777 |
ensembl | rs121917777 |
geneview | rs121917777 |
scholar | rs121917777 |
rs121917777 | |
pharmgkb | rs121917777 |
gwascentral | rs121917777 |
openSNP | rs121917777 |
23andMe | rs121917777 |
SNPshot | rs121917777 |
SNPdbe | rs121917777 |
MSV3d | rs121917777 |
GWAS Ctlg | rs121917777 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917777(A;A) rs121917777(T;T) |
Alt | rs121917777(A;A) rs121917777(T;T) |
Reference | Rs121917777(G;G) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome |
Variation | info |
Gene | BBS1 ZDHHC24 |
CLNDBN | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.66299163G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012927.17, RCV000169202.1, |