rs1043424
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1043424(A;C) |
Make rs1043424(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 20650507 |
Gene | PINK1, PINK1-AS |
is a | snp |
is | mentioned by |
dbSNP | rs1043424 |
dbSNP (classic) | rs1043424 |
ClinGen | rs1043424 |
ebi | rs1043424 |
HLI | rs1043424 |
Exac | rs1043424 |
Gnomad | rs1043424 |
Varsome | rs1043424 |
LitVar | rs1043424 |
Map | rs1043424 |
PheGenI | rs1043424 |
Biobank | rs1043424 |
1000 genomes | rs1043424 |
hgdp | rs1043424 |
ensembl | rs1043424 |
geneview | rs1043424 |
scholar | rs1043424 |
rs1043424 | |
pharmgkb | rs1043424 |
gwascentral | rs1043424 |
openSNP | rs1043424 |
23andMe | rs1043424 |
SNPshot | rs1043424 |
SNPdbe | rs1043424 |
MSV3d | rs1043424 |
GWAS Ctlg | rs1043424 |
GMAF | 0.2805 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
[PMID 18778477] Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.
ClinVar | |
---|---|
Risk | rs1043424(C;C) |
Alt | rs1043424(C;C) |
Reference | Rs1043424(A;A) |
Significance | Probable-non-pathogenic |
Disease | Congenital disorder of glycosylation Parkinson Disease |
Variation | info |
Gene | PINK1-AS PINK1 |
CLNDBN | Congenital disorder of glycosylation Parkinson Disease, Recessive |
Reversed | 0 |
HGVS | NC_000001.10:g.20977000A>C |
CLNSRC | |
CLNACC | RCV000362537.1, RCV000408170.1, |
Categories:
- Is a snp
- In dbSNP
- SNPs on chromosome 1
- Has genotype
- Has population
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Affy500k
- On chip Ancestry v2
- On chip FTDNA2
- On chip FTDNA
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip Ancestry v2c
- On chip Ancestry v2d