rs104894904
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104894904(C;C) |
Make rs104894904(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 152865819 |
Gene | NSDHL |
is a | snp |
is | mentioned by |
dbSNP | rs104894904 |
dbSNP (classic) | rs104894904 |
ClinGen | rs104894904 |
ebi | rs104894904 |
HLI | rs104894904 |
Exac | rs104894904 |
Gnomad | rs104894904 |
Varsome | rs104894904 |
LitVar | rs104894904 |
Map | rs104894904 |
PheGenI | rs104894904 |
Biobank | rs104894904 |
1000 genomes | rs104894904 |
hgdp | rs104894904 |
ensembl | rs104894904 |
geneview | rs104894904 |
scholar | rs104894904 |
rs104894904 | |
pharmgkb | rs104894904 |
gwascentral | rs104894904 |
openSNP | rs104894904 |
23andMe | rs104894904 |
SNPshot | rs104894904 |
SNPdbe | rs104894904 |
MSV3d | rs104894904 |
GWAS Ctlg | rs104894904 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894904(C;C) |
Alt | rs104894904(C;C) |
Reference | Rs104894904(G;G) |
Significance | Pathogenic |
Disease | Child syndrome |
Variation | info |
Gene | NSDHL |
CLNDBN | Child syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.152034363G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012183.11, |