rs879253712
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TGTCTTT;TGTCTTT) | 0 | common in clinvar |
Make rs879253712(-;-) |
Make rs879253712(-;TGTCTTT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 3908224 |
Gene | PANK2 |
is a | snp |
is | mentioned by |
dbSNP | rs879253712 |
dbSNP (classic) | rs879253712 |
ClinGen | rs879253712 |
ebi | rs879253712 |
HLI | rs879253712 |
Exac | rs879253712 |
Gnomad | rs879253712 |
Varsome | rs879253712 |
LitVar | rs879253712 |
Map | rs879253712 |
PheGenI | rs879253712 |
Biobank | rs879253712 |
1000 genomes | rs879253712 |
hgdp | rs879253712 |
ensembl | rs879253712 |
geneview | rs879253712 |
scholar | rs879253712 |
rs879253712 | |
pharmgkb | rs879253712 |
gwascentral | rs879253712 |
openSNP | rs879253712 |
23andMe | rs879253712 |
SNPshot | rs879253712 |
SNPdbe | rs879253712 |
MSV3d | rs879253712 |
GWAS Ctlg | rs879253712 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253712(-;-) |
Alt | rs879253712(-;-) |
Reference | Rs879253712(TGTCTTT;TGTCTTT) |
Significance | Pathogenic |
Disease | Pigmentary pallidal degeneration |
Variation | info |
Gene | PANK2 |
CLNDBN | Pigmentary pallidal degeneration |
Reversed | 0 |
HGVS | NC_000020.10:g.3888871_3888877delTGTCTTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004806.3, |