rs121434292
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
(C;T) | 3 | Carrier of an acrodermatitis enteropathica mutation |
Make rs121434292(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 144416001 |
Gene | SLC39A4 |
is a | snp |
is | mentioned by |
dbSNP | rs121434292 |
dbSNP (classic) | rs121434292 |
ClinGen | rs121434292 |
ebi | rs121434292 |
HLI | rs121434292 |
Exac | rs121434292 |
Gnomad | rs121434292 |
Varsome | rs121434292 |
LitVar | rs121434292 |
Map | rs121434292 |
PheGenI | rs121434292 |
Biobank | rs121434292 |
1000 genomes | rs121434292 |
hgdp | rs121434292 |
ensembl | rs121434292 |
geneview | rs121434292 |
scholar | rs121434292 |
rs121434292 | |
pharmgkb | rs121434292 |
gwascentral | rs121434292 |
openSNP | rs121434292 |
23andMe | rs121434292 |
SNPshot | rs121434292 |
SNPdbe | rs121434292 |
MSV3d | rs121434292 |
GWAS Ctlg | rs121434292 |
Max Magnitude | 3 |
aka c.283C>T (p.Arg95Cys)
Note that dbSNP reports the existence of an alternate alternate allele, c.283C>A (p.Arg95Ser), but the pathogenicity is not reported.
ClinVar | |
---|---|
Risk | rs121434292(A;A) rs121434292(T;T) |
Alt | rs121434292(A;A) rs121434292(T;T) |
Reference | Rs121434292(C;C) |
Significance | Pathogenic |
Disease | Hereditary acrodermatitis enteropathica |
Variation | info |
Gene | SLC39A4 |
CLNDBN | Hereditary acrodermatitis enteropathica |
Reversed | 1 |
HGVS | NC_000008.10:g.145641385G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003722.3, |