rs755205487
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs755205487(A;A) |
Make rs755205487(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 130668259 |
Gene | PRDM12 |
is a | snp |
is | mentioned by |
dbSNP | rs755205487 |
dbSNP (classic) | rs755205487 |
ClinGen | rs755205487 |
ebi | rs755205487 |
HLI | rs755205487 |
Exac | rs755205487 |
Gnomad | rs755205487 |
Varsome | rs755205487 |
LitVar | rs755205487 |
Map | rs755205487 |
PheGenI | rs755205487 |
Biobank | rs755205487 |
1000 genomes | rs755205487 |
hgdp | rs755205487 |
ensembl | rs755205487 |
geneview | rs755205487 |
scholar | rs755205487 |
rs755205487 | |
pharmgkb | rs755205487 |
gwascentral | rs755205487 |
openSNP | rs755205487 |
23andMe | rs755205487 |
SNPshot | rs755205487 |
SNPdbe | rs755205487 |
MSV3d | rs755205487 |
GWAS Ctlg | rs755205487 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755205487(A;A) rs755205487(C;C) |
Alt | rs755205487(A;A) rs755205487(C;C) |
Reference | Rs755205487(G;G) |
Significance | Pathogenic |
Disease | Neuropathy |
Variation | info |
Gene | PRDM12 |
CLNDBN | Neuropathy, hereditary sensory and autonomic, type VIII |
Reversed | 0 |
HGVS | NC_000009.11:g.133543646G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239564.1, |