rs201441120
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201441120(G;T) |
Make rs201441120(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 67657847 |
Gene | ACD, CARMIL2 |
is a | snp |
is | mentioned by |
dbSNP | rs201441120 |
dbSNP (classic) | rs201441120 |
ClinGen | rs201441120 |
ebi | rs201441120 |
HLI | rs201441120 |
Exac | rs201441120 |
Gnomad | rs201441120 |
Varsome | rs201441120 |
LitVar | rs201441120 |
Map | rs201441120 |
PheGenI | rs201441120 |
Biobank | rs201441120 |
1000 genomes | rs201441120 |
hgdp | rs201441120 |
ensembl | rs201441120 |
geneview | rs201441120 |
scholar | rs201441120 |
rs201441120 | |
pharmgkb | rs201441120 |
gwascentral | rs201441120 |
openSNP | rs201441120 |
23andMe | rs201441120 |
SNPshot | rs201441120 |
SNPdbe | rs201441120 |
MSV3d | rs201441120 |
GWAS Ctlg | rs201441120 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201441120(T;T) |
Alt | rs201441120(T;T) |
Reference | Rs201441120(G;G) |
Significance | Pathogenic |
Disease | Dyskeratosis congenita Dyskeratosis congenita |
Variation | info |
Gene | ACD CARMIL2 RLTPR |
CLNDBN | Dyskeratosis congenita, autosomal recessive 7 Dyskeratosis congenita, autosomal dominant 6 |
Reversed | 0 |
HGVS | NC_000016.9:g.67691750G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190905.2, RCV000225075.1, |