rs119103286
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs119103286(A;A) |
Make rs119103286(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 88841196 |
Gene | TTC8 |
is a | snp |
is | mentioned by |
dbSNP | rs119103286 |
dbSNP (classic) | rs119103286 |
ClinGen | rs119103286 |
ebi | rs119103286 |
HLI | rs119103286 |
Exac | rs119103286 |
Gnomad | rs119103286 |
Varsome | rs119103286 |
LitVar | rs119103286 |
Map | rs119103286 |
PheGenI | rs119103286 |
Biobank | rs119103286 |
1000 genomes | rs119103286 |
hgdp | rs119103286 |
ensembl | rs119103286 |
geneview | rs119103286 |
scholar | rs119103286 |
rs119103286 | |
pharmgkb | rs119103286 |
gwascentral | rs119103286 |
openSNP | rs119103286 |
23andMe | rs119103286 |
SNPshot | rs119103286 |
SNPdbe | rs119103286 |
MSV3d | rs119103286 |
GWAS Ctlg | rs119103286 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119103286(A;A) |
Alt | rs119103286(A;A) |
Reference | Rs119103286(G;G) |
Significance | Other |
Disease | Bardet-Biedl syndrome 8 Bardet-Biedl syndrome Intellectual disability Postaxial foot polydactyly Truncal obesity |
Variation | info |
Gene | TTC8 |
CLNDBN | Bardet-Biedl syndrome 8 Bardet-Biedl syndrome Intellectual disability, moderate Postaxial foot polydactyly Truncal obesity |
Reversed | 0 |
HGVS | NC_000014.8:g.89307540G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002639.3, RCV000203928.2, RCV000415339.1, |