rs121434405
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121434405(C;T) |
Make rs121434405(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 92833452 |
Gene | FAM69A, RPL5 |
is a | snp |
is | mentioned by |
dbSNP | rs121434405 |
dbSNP (classic) | rs121434405 |
ClinGen | rs121434405 |
ebi | rs121434405 |
HLI | rs121434405 |
Exac | rs121434405 |
Gnomad | rs121434405 |
Varsome | rs121434405 |
LitVar | rs121434405 |
Map | rs121434405 |
PheGenI | rs121434405 |
Biobank | rs121434405 |
1000 genomes | rs121434405 |
hgdp | rs121434405 |
ensembl | rs121434405 |
geneview | rs121434405 |
scholar | rs121434405 |
rs121434405 | |
pharmgkb | rs121434405 |
gwascentral | rs121434405 |
openSNP | rs121434405 |
23andMe | rs121434405 |
SNPshot | rs121434405 |
SNPdbe | rs121434405 |
MSV3d | rs121434405 |
GWAS Ctlg | rs121434405 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434405(T;T) |
Alt | rs121434405(T;T) |
Reference | Rs121434405(C;C) |
Significance | Pathogenic |
Disease | Aase syndrome |
Variation | info |
Gene | RPL5 FAM69A |
CLNDBN | Aase syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.93299009C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006556.2, |