rs483352838
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs483352838(-;CCGCGGC) |
Make rs483352838(CCGCGGC;CCGCGGC) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 12885704 |
Gene | KLF1 |
is a | snp |
is | mentioned by |
dbSNP | rs483352838 |
dbSNP (classic) | rs483352838 |
ClinGen | rs483352838 |
ebi | rs483352838 |
HLI | rs483352838 |
Exac | rs483352838 |
Gnomad | rs483352838 |
Varsome | rs483352838 |
LitVar | rs483352838 |
Map | rs483352838 |
PheGenI | rs483352838 |
Biobank | rs483352838 |
1000 genomes | rs483352838 |
hgdp | rs483352838 |
ensembl | rs483352838 |
geneview | rs483352838 |
scholar | rs483352838 |
rs483352838 | |
pharmgkb | rs483352838 |
gwascentral | rs483352838 |
openSNP | rs483352838 |
23andMe | rs483352838 |
SNPshot | rs483352838 |
SNPdbe | rs483352838 |
MSV3d | rs483352838 |
GWAS Ctlg | rs483352838 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483352838(CGGCGCC;CGGCGCC) |
Alt | rs483352838(CGGCGCC;CGGCGCC) |
Reference | Rs483352838(-;-) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | KLF1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000019.9:g.12996519_12996525dupGGCGCCG |
CLNSRC | ClinVar |
CLNACC | RCV000087157.1, |