rs797045650
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs797045650(A;T) |
Make rs797045650(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 92609068 |
Gene | KIF11 |
is a | snp |
is | mentioned by |
dbSNP | rs797045650 |
dbSNP (classic) | rs797045650 |
ClinGen | rs797045650 |
ebi | rs797045650 |
HLI | rs797045650 |
Exac | rs797045650 |
Gnomad | rs797045650 |
Varsome | rs797045650 |
LitVar | rs797045650 |
Map | rs797045650 |
PheGenI | rs797045650 |
Biobank | rs797045650 |
1000 genomes | rs797045650 |
hgdp | rs797045650 |
ensembl | rs797045650 |
geneview | rs797045650 |
scholar | rs797045650 |
rs797045650 | |
pharmgkb | rs797045650 |
gwascentral | rs797045650 |
openSNP | rs797045650 |
23andMe | rs797045650 |
SNPshot | rs797045650 |
SNPdbe | rs797045650 |
MSV3d | rs797045650 |
GWAS Ctlg | rs797045650 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045650(T;T) |
Alt | rs797045650(T;T) |
Reference | Rs797045650(A;A) |
Significance | Pathogenic |
Disease | Microcephaly with or without chorioretinopathy |
Variation | info |
Gene | KIF11 |
CLNDBN | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
Reversed | 0 |
HGVS | NC_000010.10:g.94368825A>T |
CLNSRC | |
CLNACC | RCV000193017.1, |