rs727502805
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs727502805(-;-) |
Make rs727502805(-;AA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 112756816 |
Gene | CKAP2L |
is a | snp |
is | mentioned by |
dbSNP | rs727502805 |
dbSNP (classic) | rs727502805 |
ClinGen | rs727502805 |
ebi | rs727502805 |
HLI | rs727502805 |
Exac | rs727502805 |
Gnomad | rs727502805 |
Varsome | rs727502805 |
LitVar | rs727502805 |
Map | rs727502805 |
PheGenI | rs727502805 |
Biobank | rs727502805 |
1000 genomes | rs727502805 |
hgdp | rs727502805 |
ensembl | rs727502805 |
geneview | rs727502805 |
scholar | rs727502805 |
rs727502805 | |
pharmgkb | rs727502805 |
gwascentral | rs727502805 |
openSNP | rs727502805 |
23andMe | rs727502805 |
SNPshot | rs727502805 |
SNPdbe | rs727502805 |
MSV3d | rs727502805 |
GWAS Ctlg | rs727502805 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502805(-;-) |
Alt | rs727502805(-;-) |
Reference | Rs727502805(AA;AA) |
Significance | Pathogenic |
Disease | Filippi syndrome |
Variation | info |
Gene | CKAP2L |
CLNDBN | Filippi syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.113514393_113514394delTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149784.3, |