rs199469699
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs199469699(-;GATCAAAGTGATTTCAGGGATCCTCACCCAGGGGCGCTGTGACATCGA) |
Make rs199469699(GATCAAAGTGATTTCAGGGATCCTCACCCAGGGGCGCTGTGACATCGA;GATCAAAGTGATTTCAGGGATCCTCACCCAGGGGCGCTGTGACATCGA) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 18644517 |
Gene | CDKL5, RS1 |
is a | snp |
is | mentioned by |
dbSNP | rs199469699 |
dbSNP (classic) | rs199469699 |
ClinGen | rs199469699 |
ebi | rs199469699 |
HLI | rs199469699 |
Exac | rs199469699 |
Gnomad | rs199469699 |
Varsome | rs199469699 |
LitVar | rs199469699 |
Map | rs199469699 |
PheGenI | rs199469699 |
Biobank | rs199469699 |
1000 genomes | rs199469699 |
hgdp | rs199469699 |
ensembl | rs199469699 |
geneview | rs199469699 |
scholar | rs199469699 |
rs199469699 | |
pharmgkb | rs199469699 |
gwascentral | rs199469699 |
openSNP | rs199469699 |
23andMe | rs199469699 |
SNPshot | rs199469699 |
SNPdbe | rs199469699 |
MSV3d | rs199469699 |
GWAS Ctlg | rs199469699 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199469699(GATCAAAGTGATTTCAGGGATCCTCACCCAGGGGCGCTGTGACATCGA;GATCAAAGTGATTTCAGGGATCCTCACCCAGGGGCGCTGTGACATCGA) |
Alt | rs199469699(GATCAAAGTGATTTCAGGGATCCTCACCCAGGGGCGCTGTGACATCGA;GATCAAAGTGATTTCAGGGATCCTCACCCAGGGGCGCTGTGACATCGA) |
Reference | Rs199469699(-;-) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | CDKL5 RS1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.18662638_18662685dup48 |
CLNSRC | ClinVar |
CLNACC | RCV000058879.1, |