rs141521925
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs141521925(C;C) |
Make rs141521925(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 76346249 |
Gene | BBS10 |
is a | snp |
is | mentioned by |
dbSNP | rs141521925 |
dbSNP (classic) | rs141521925 |
ClinGen | rs141521925 |
ebi | rs141521925 |
HLI | rs141521925 |
Exac | rs141521925 |
Gnomad | rs141521925 |
Varsome | rs141521925 |
LitVar | rs141521925 |
Map | rs141521925 |
PheGenI | rs141521925 |
Biobank | rs141521925 |
1000 genomes | rs141521925 |
hgdp | rs141521925 |
ensembl | rs141521925 |
geneview | rs141521925 |
scholar | rs141521925 |
rs141521925 | |
pharmgkb | rs141521925 |
gwascentral | rs141521925 |
openSNP | rs141521925 |
23andMe | rs141521925 |
SNPshot | rs141521925 |
SNPdbe | rs141521925 |
MSV3d | rs141521925 |
GWAS Ctlg | rs141521925 |
GMAF | 0.001377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141521925(C;C) |
Alt | rs141521925(C;C) |
Reference | Rs141521925(T;T) |
Significance | Other |
Disease | Bardet-Biedl syndrome not specified |
Variation | info |
Gene | BBS10 |
CLNDBN | Bardet-Biedl syndrome not specified |
Reversed | 0 |
HGVS | NC_000012.11:g.76740029T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000029402.2, RCV000246690.1, |
[PMID 17101080] [Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].