rs121908175
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908175(C;G) |
Make rs121908175(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 56519791 |
Gene | BBS2 |
is a | snp |
is | mentioned by |
dbSNP | rs121908175 |
dbSNP (classic) | rs121908175 |
ClinGen | rs121908175 |
ebi | rs121908175 |
HLI | rs121908175 |
Exac | rs121908175 |
Gnomad | rs121908175 |
Varsome | rs121908175 |
LitVar | rs121908175 |
Map | rs121908175 |
PheGenI | rs121908175 |
Biobank | rs121908175 |
1000 genomes | rs121908175 |
hgdp | rs121908175 |
ensembl | rs121908175 |
geneview | rs121908175 |
scholar | rs121908175 |
rs121908175 | |
pharmgkb | rs121908175 |
gwascentral | rs121908175 |
openSNP | rs121908175 |
23andMe | rs121908175 |
SNPshot | rs121908175 |
SNPdbe | rs121908175 |
MSV3d | rs121908175 |
GWAS Ctlg | rs121908175 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908175(G;G) |
Alt | rs121908175(G;G) |
Reference | Rs121908175(C;C) |
Significance | Pathogenic |
Disease | Bardet-biedl syndrome 2/6 Bardet-Biedl syndrome 2 |
Variation | info |
Gene | BBS2 |
CLNDBN | Bardet-biedl syndrome 2/6, digenic Bardet-Biedl syndrome 2 |
Reversed | 1 |
HGVS | NC_000016.9:g.56553703G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004832.4, RCV000412476.1, |