rs113994178
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG;AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG) | 0 | common in clinvar |
(CGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTC;CGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTC) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs113994178(-;-) |
Make rs113994178(-;AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 66510657 |
Gene | BBS1 |
is a | snp |
is | mentioned by |
dbSNP | rs113994178 |
dbSNP (classic) | rs113994178 |
ClinGen | rs113994178 |
ebi | rs113994178 |
HLI | rs113994178 |
Exac | rs113994178 |
Gnomad | rs113994178 |
Varsome | rs113994178 |
LitVar | rs113994178 |
Map | rs113994178 |
PheGenI | rs113994178 |
Biobank | rs113994178 |
1000 genomes | rs113994178 |
hgdp | rs113994178 |
ensembl | rs113994178 |
geneview | rs113994178 |
scholar | rs113994178 |
rs113994178 | |
pharmgkb | rs113994178 |
gwascentral | rs113994178 |
openSNP | rs113994178 |
23andMe | rs113994178 |
SNPshot | rs113994178 |
SNPdbe | rs113994178 |
MSV3d | rs113994178 |
GWAS Ctlg | rs113994178 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113994178(-;-) |
Alt | rs113994178(-;-) |
Reference | Rs113994178(CGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTC;CGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTC) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome |
Variation | info |
Gene | BBS1 |
CLNDBN | Bardet-Biedl syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.66278128_66278167del40 |
CLNSRC | GeneReviews |
CLNACC | RCV000020906.2, |
[PMID 12524598] Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).