rs727502803
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs727502803(-;TT) |
Make rs727502803(TT;TT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 112762528 |
Gene | CKAP2L |
is a | snp |
is | mentioned by |
dbSNP | rs727502803 |
dbSNP (classic) | rs727502803 |
ClinGen | rs727502803 |
ebi | rs727502803 |
HLI | rs727502803 |
Exac | rs727502803 |
Gnomad | rs727502803 |
Varsome | rs727502803 |
LitVar | rs727502803 |
Map | rs727502803 |
PheGenI | rs727502803 |
Biobank | rs727502803 |
1000 genomes | rs727502803 |
hgdp | rs727502803 |
ensembl | rs727502803 |
geneview | rs727502803 |
scholar | rs727502803 |
rs727502803 | |
pharmgkb | rs727502803 |
gwascentral | rs727502803 |
openSNP | rs727502803 |
23andMe | rs727502803 |
SNPshot | rs727502803 |
SNPdbe | rs727502803 |
MSV3d | rs727502803 |
GWAS Ctlg | rs727502803 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502803(TT;TT) |
Alt | rs727502803(TT;TT) |
Reference | Rs727502803(-;-) |
Significance | Pathogenic |
Disease | Filippi syndrome |
Variation | info |
Gene | CKAP2L |
CLNDBN | Filippi syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.113520105_113520106insAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149781.3, |