rs142331975
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs142331975(A;A) |
Make rs142331975(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 31089462 |
Gene | DSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs142331975 |
dbSNP (classic) | rs142331975 |
ClinGen | rs142331975 |
ebi | rs142331975 |
HLI | rs142331975 |
Exac | rs142331975 |
Gnomad | rs142331975 |
Varsome | rs142331975 |
LitVar | rs142331975 |
Map | rs142331975 |
PheGenI | rs142331975 |
Biobank | rs142331975 |
1000 genomes | rs142331975 |
hgdp | rs142331975 |
ensembl | rs142331975 |
geneview | rs142331975 |
scholar | rs142331975 |
rs142331975 | |
pharmgkb | rs142331975 |
gwascentral | rs142331975 |
openSNP | rs142331975 |
23andMe | rs142331975 |
SNPshot | rs142331975 |
SNPdbe | rs142331975 |
MSV3d | rs142331975 |
GWAS Ctlg | rs142331975 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142331975(A;A) |
Alt | rs142331975(A;A) |
Reference | Rs142331975(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | DSC2 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000018.9:g.28669425G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000155026.2, |