rs199422246
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199422246(C;T) |
Make rs199422246(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154767020 |
Gene | DKC1, MIR664B, SNORA36A |
is a | snp |
is | mentioned by |
dbSNP | rs199422246 |
dbSNP (classic) | rs199422246 |
ClinGen | rs199422246 |
ebi | rs199422246 |
HLI | rs199422246 |
Exac | rs199422246 |
Gnomad | rs199422246 |
Varsome | rs199422246 |
LitVar | rs199422246 |
Map | rs199422246 |
PheGenI | rs199422246 |
Biobank | rs199422246 |
1000 genomes | rs199422246 |
hgdp | rs199422246 |
ensembl | rs199422246 |
geneview | rs199422246 |
scholar | rs199422246 |
rs199422246 | |
pharmgkb | rs199422246 |
gwascentral | rs199422246 |
openSNP | rs199422246 |
23andMe | rs199422246 |
SNPshot | rs199422246 |
SNPdbe | rs199422246 |
MSV3d | rs199422246 |
GWAS Ctlg | rs199422246 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199422246(T;T) |
Alt | rs199422246(T;T) |
Reference | Rs199422246(C;C) |
Significance | Pathogenic |
Disease | Dyskeratosis congenita X-linked not specified |
Variation | info |
Gene | DKC1 MIR664B SNORA36A |
CLNDBN | Dyskeratosis congenita X-linked not specified |
Reversed | 0 |
HGVS | NC_000023.10:g.153995295C>T |
CLNSRC | HGMD |
CLNACC | RCV000032201.1, RCV000079663.4, |