rs606231197
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TTGGGATAGGGAGCCAGCTCCTC;TTGGGATAGGGAGCCAGCTCCTC) | 0 | common in clinvar |
Make rs606231197(-;-) |
Make rs606231197(-;CTCTTGGGATAGGGAGCCAGCTC) |
Make rs606231197(CTCTTGGGATAGGGAGCCAGCTC;CTCTTGGGATAGGGAGCCAGCTC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 48902487 |
Gene | PQBP1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231197 |
dbSNP (classic) | rs606231197 |
ClinGen | rs606231197 |
ebi | rs606231197 |
HLI | rs606231197 |
Exac | rs606231197 |
Gnomad | rs606231197 |
Varsome | rs606231197 |
LitVar | rs606231197 |
Map | rs606231197 |
PheGenI | rs606231197 |
Biobank | rs606231197 |
1000 genomes | rs606231197 |
hgdp | rs606231197 |
ensembl | rs606231197 |
geneview | rs606231197 |
scholar | rs606231197 |
rs606231197 | |
pharmgkb | rs606231197 |
gwascentral | rs606231197 |
openSNP | rs606231197 |
23andMe | rs606231197 |
SNPshot | rs606231197 |
SNPdbe | rs606231197 |
MSV3d | rs606231197 |
GWAS Ctlg | rs606231197 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231197(-;-) |
Alt | rs606231197(-;-) |
Reference | Rs606231197(TTGGGATAGGGAGCCAGCTCCTC;TTGGGATAGGGAGCCAGCTCCTC) |
Significance | Pathogenic |
Disease | Renpenning syndrome 1 |
Variation | info |
Gene | PQBP1 |
CLNDBN | Renpenning syndrome 1 |
Reversed | 1 |
HGVS | NC_000023.10:g.48759764_48759786del23 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011730.10, |