rs104894883
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894883(C;T) |
Make rs104894883(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 43949899 |
Gene | NDP |
is a | snp |
is | mentioned by |
dbSNP | rs104894883 |
dbSNP (classic) | rs104894883 |
ClinGen | rs104894883 |
ebi | rs104894883 |
HLI | rs104894883 |
Exac | rs104894883 |
Gnomad | rs104894883 |
Varsome | rs104894883 |
LitVar | rs104894883 |
Map | rs104894883 |
PheGenI | rs104894883 |
Biobank | rs104894883 |
1000 genomes | rs104894883 |
hgdp | rs104894883 |
ensembl | rs104894883 |
geneview | rs104894883 |
scholar | rs104894883 |
rs104894883 | |
pharmgkb | rs104894883 |
gwascentral | rs104894883 |
openSNP | rs104894883 |
23andMe | rs104894883 |
SNPshot | rs104894883 |
SNPdbe | rs104894883 |
MSV3d | rs104894883 |
GWAS Ctlg | rs104894883 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894883(T;T) |
Alt | rs104894883(T;T) |
Reference | Rs104894883(C;C) |
Significance | Pathogenic |
Disease | Atrophia bulborum hereditaria |
Variation | info |
Gene | NDP |
CLNDBN | Atrophia bulborum hereditaria |
Reversed | 1 |
HGVS | NC_000023.10:g.43809145G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011445.4, |