rs727503818
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs727503818(-;-) |
Make rs727503818(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 76346894 |
Gene | BBS10 |
is a | snp |
is | mentioned by |
dbSNP | rs727503818 |
dbSNP (classic) | rs727503818 |
ClinGen | rs727503818 |
ebi | rs727503818 |
HLI | rs727503818 |
Exac | rs727503818 |
Gnomad | rs727503818 |
Varsome | rs727503818 |
LitVar | rs727503818 |
Map | rs727503818 |
PheGenI | rs727503818 |
Biobank | rs727503818 |
1000 genomes | rs727503818 |
hgdp | rs727503818 |
ensembl | rs727503818 |
geneview | rs727503818 |
scholar | rs727503818 |
rs727503818 | |
pharmgkb | rs727503818 |
gwascentral | rs727503818 |
openSNP | rs727503818 |
23andMe | rs727503818 |
SNPshot | rs727503818 |
SNPdbe | rs727503818 |
MSV3d | rs727503818 |
GWAS Ctlg | rs727503818 |
Merged from | Rs727503819 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503818(-;-) |
Alt | rs727503818(-;-) |
Reference | Rs727503818(A;A) |
Significance | Other |
Disease | Bardet-Biedl syndrome Bardet-Biedl syndrome 10 |
Variation | info |
Gene | BBS10 |
CLNDBN | Bardet-Biedl syndrome Bardet-Biedl syndrome 10 |
Reversed | 1 |
HGVS | NC_000012.11:g.76740674delT |
CLNSRC | HGMD |
CLNACC | RCV000152827.5, RCV000169072.3, |