rs757350052
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs757350052(C;C) |
Make rs757350052(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 58456701 |
Gene | KIAA0586 |
is a | snp |
is | mentioned by |
dbSNP | rs757350052 |
dbSNP (classic) | rs757350052 |
ClinGen | rs757350052 |
ebi | rs757350052 |
HLI | rs757350052 |
Exac | rs757350052 |
Gnomad | rs757350052 |
Varsome | rs757350052 |
LitVar | rs757350052 |
Map | rs757350052 |
PheGenI | rs757350052 |
Biobank | rs757350052 |
1000 genomes | rs757350052 |
hgdp | rs757350052 |
ensembl | rs757350052 |
geneview | rs757350052 |
scholar | rs757350052 |
rs757350052 | |
pharmgkb | rs757350052 |
gwascentral | rs757350052 |
openSNP | rs757350052 |
23andMe | rs757350052 |
SNPshot | rs757350052 |
SNPdbe | rs757350052 |
MSV3d | rs757350052 |
GWAS Ctlg | rs757350052 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757350052(C;C) |
Alt | rs757350052(C;C) |
Reference | Rs757350052(G;G) |
Significance | Pathogenic |
Disease | Joubert syndrome 23 not provided |
Variation | info |
Gene | KIAA0586 |
CLNDBN | Joubert syndrome 23 not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.58923419G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000186591.4, RCV000479178.1, |