rs775414124
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs775414124(C;C) |
Make rs775414124(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 49332008 |
Gene | DYM |
is a | snp |
is | mentioned by |
dbSNP | rs775414124 |
dbSNP (classic) | rs775414124 |
ClinGen | rs775414124 |
ebi | rs775414124 |
HLI | rs775414124 |
Exac | rs775414124 |
Gnomad | rs775414124 |
Varsome | rs775414124 |
LitVar | rs775414124 |
Map | rs775414124 |
PheGenI | rs775414124 |
Biobank | rs775414124 |
1000 genomes | rs775414124 |
hgdp | rs775414124 |
ensembl | rs775414124 |
geneview | rs775414124 |
scholar | rs775414124 |
rs775414124 | |
pharmgkb | rs775414124 |
gwascentral | rs775414124 |
openSNP | rs775414124 |
23andMe | rs775414124 |
SNPshot | rs775414124 |
SNPdbe | rs775414124 |
MSV3d | rs775414124 |
GWAS Ctlg | rs775414124 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775414124(C;C) |
Alt | rs775414124(C;C) |
Reference | Rs775414124(T;T) |
Significance | Pathogenic |
Disease | Dyggve-Melchior-Clausen syndrome |
Variation | info |
Gene | DYM |
CLNDBN | Dyggve-Melchior-Clausen syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.46858378T>C |
CLNSRC | |
CLNACC | RCV000180341.1, |