rs748688175
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs748688175(A;A) |
Make rs748688175(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 90037764 |
Gene | GAS8 |
is a | snp |
is | mentioned by |
dbSNP | rs748688175 |
dbSNP (classic) | rs748688175 |
ClinGen | rs748688175 |
ebi | rs748688175 |
HLI | rs748688175 |
Exac | rs748688175 |
Gnomad | rs748688175 |
Varsome | rs748688175 |
LitVar | rs748688175 |
Map | rs748688175 |
PheGenI | rs748688175 |
Biobank | rs748688175 |
1000 genomes | rs748688175 |
hgdp | rs748688175 |
ensembl | rs748688175 |
geneview | rs748688175 |
scholar | rs748688175 |
rs748688175 | |
pharmgkb | rs748688175 |
gwascentral | rs748688175 |
openSNP | rs748688175 |
23andMe | rs748688175 |
SNPshot | rs748688175 |
SNPdbe | rs748688175 |
MSV3d | rs748688175 |
GWAS Ctlg | rs748688175 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748688175(A;A) rs748688175(T;T) |
Alt | rs748688175(A;A) rs748688175(T;T) |
Reference | Rs748688175(C;C) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | GAS8 |
CLNDBN | Ciliary dyskinesia, primary, 33 |
Reversed | 0 |
HGVS | NC_000016.9:g.90104172C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203519.1, |