rs752169833
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs752169833(C;T) |
Make rs752169833(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 56102878 |
Gene | CHCHD2 |
is a | snp |
is | mentioned by |
dbSNP | rs752169833 |
dbSNP (classic) | rs752169833 |
ClinGen | rs752169833 |
ebi | rs752169833 |
HLI | rs752169833 |
Exac | rs752169833 |
Gnomad | rs752169833 |
Varsome | rs752169833 |
LitVar | rs752169833 |
Map | rs752169833 |
PheGenI | rs752169833 |
Biobank | rs752169833 |
1000 genomes | rs752169833 |
hgdp | rs752169833 |
ensembl | rs752169833 |
geneview | rs752169833 |
scholar | rs752169833 |
rs752169833 | |
pharmgkb | rs752169833 |
gwascentral | rs752169833 |
openSNP | rs752169833 |
23andMe | rs752169833 |
SNPshot | rs752169833 |
SNPdbe | rs752169833 |
MSV3d | rs752169833 |
GWAS Ctlg | rs752169833 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752169833(A;A) rs752169833(T;T) |
Alt | rs752169833(A;A) rs752169833(T;T) |
Reference | Rs752169833(C;C) |
Significance | Pathogenic |
Disease | Parkinson disease 22 |
Variation | info |
Gene | CHCHD2 |
CLNDBN | Parkinson disease 22, autosomal dominant |
Reversed | 0 |
HGVS | NC_000007.13:g.56170571C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203222.2, |