rs1060500996
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TTATT;TTATT) | 0 | common in clinvar |
Make rs1060500996(-;-) |
Make rs1060500996(-;TTATT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 76347724 |
Gene | BBS10 |
is a | snp |
is | mentioned by |
dbSNP | rs1060500996 |
dbSNP (classic) | rs1060500996 |
ClinGen | rs1060500996 |
ebi | rs1060500996 |
HLI | rs1060500996 |
Exac | rs1060500996 |
Gnomad | rs1060500996 |
Varsome | rs1060500996 |
LitVar | rs1060500996 |
Map | rs1060500996 |
PheGenI | rs1060500996 |
Biobank | rs1060500996 |
1000 genomes | rs1060500996 |
hgdp | rs1060500996 |
ensembl | rs1060500996 |
geneview | rs1060500996 |
scholar | rs1060500996 |
rs1060500996 | |
pharmgkb | rs1060500996 |
gwascentral | rs1060500996 |
openSNP | rs1060500996 |
23andMe | rs1060500996 |
SNPshot | rs1060500996 |
SNPdbe | rs1060500996 |
MSV3d | rs1060500996 |
GWAS Ctlg | rs1060500996 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500996(-;-) |
Alt | rs1060500996(-;-) |
Reference | Rs1060500996(TTATT;TTATT) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome |
Variation | info |
Gene | BBS10 |
CLNDBN | Bardet-Biedl syndrome |
Reversed | 1 |
HGVS | NC_000012.11:g.76741504_76741508delAATAA |
CLNSRC | |
CLNACC | RCV000466285.1, |