rs148987163
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs148987163(G;T) |
Make rs148987163(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 3916926 |
Gene | MIR103A2, PANK2 |
is a | snp |
is | mentioned by |
dbSNP | rs148987163 |
dbSNP (classic) | rs148987163 |
ClinGen | rs148987163 |
ebi | rs148987163 |
HLI | rs148987163 |
Exac | rs148987163 |
Gnomad | rs148987163 |
Varsome | rs148987163 |
LitVar | rs148987163 |
Map | rs148987163 |
PheGenI | rs148987163 |
Biobank | rs148987163 |
1000 genomes | rs148987163 |
hgdp | rs148987163 |
ensembl | rs148987163 |
geneview | rs148987163 |
scholar | rs148987163 |
rs148987163 | |
pharmgkb | rs148987163 |
gwascentral | rs148987163 |
openSNP | rs148987163 |
23andMe | rs148987163 |
SNPshot | rs148987163 |
SNPdbe | rs148987163 |
MSV3d | rs148987163 |
GWAS Ctlg | rs148987163 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148987163(T;T) |
Alt | rs148987163(T;T) |
Reference | Rs148987163(G;G) |
Significance | Pathogenic |
Disease | Hypoprebetalipoproteinemia Pigmentary pallidal degeneration |
Variation | info |
Gene | MIR103A2 PANK2 |
CLNDBN | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Pigmentary pallidal degeneration |
Reversed | 0 |
HGVS | NC_000020.10:g.3897573G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004820.2, RCV000004821.2, |