rs121909833
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GAA;GAA) | 0 | common in clinvar |
Make rs121909833(-;-) |
Make rs121909833(-;GAA) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 152867580 |
Gene | NSDHL |
is a | snp |
is | mentioned by |
dbSNP | rs121909833 |
dbSNP (classic) | rs121909833 |
ClinGen | rs121909833 |
ebi | rs121909833 |
HLI | rs121909833 |
Exac | rs121909833 |
Gnomad | rs121909833 |
Varsome | rs121909833 |
LitVar | rs121909833 |
Map | rs121909833 |
PheGenI | rs121909833 |
Biobank | rs121909833 |
1000 genomes | rs121909833 |
hgdp | rs121909833 |
ensembl | rs121909833 |
geneview | rs121909833 |
scholar | rs121909833 |
rs121909833 | |
pharmgkb | rs121909833 |
gwascentral | rs121909833 |
openSNP | rs121909833 |
23andMe | rs121909833 |
SNPshot | rs121909833 |
SNPdbe | rs121909833 |
MSV3d | rs121909833 |
GWAS Ctlg | rs121909833 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909833(-;-) |
Alt | rs121909833(-;-) |
Reference | Rs121909833(GAA;GAA) |
Significance | Pathogenic |
Disease | NSDHL-Related Disorders |
Variation | info |
Gene | NSDHL |
CLNDBN | NSDHL-Related Disorders |
Reversed | 0 |
HGVS | NC_000023.10:g.152036124_152036126delGAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000020430.11, |