rs397518461
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397518461(A;C) |
Make rs397518461(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 219506260 |
Gene | GMPPA, LOC105373885 |
is a | snp |
is | mentioned by |
dbSNP | rs397518461 |
dbSNP (classic) | rs397518461 |
ClinGen | rs397518461 |
ebi | rs397518461 |
HLI | rs397518461 |
Exac | rs397518461 |
Gnomad | rs397518461 |
Varsome | rs397518461 |
LitVar | rs397518461 |
Map | rs397518461 |
PheGenI | rs397518461 |
Biobank | rs397518461 |
1000 genomes | rs397518461 |
hgdp | rs397518461 |
ensembl | rs397518461 |
geneview | rs397518461 |
scholar | rs397518461 |
rs397518461 | |
pharmgkb | rs397518461 |
gwascentral | rs397518461 |
openSNP | rs397518461 |
23andMe | rs397518461 |
SNPshot | rs397518461 |
SNPdbe | rs397518461 |
MSV3d | rs397518461 |
GWAS Ctlg | rs397518461 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397518461(C;C) |
Alt | rs397518461(C;C) |
Reference | Rs397518461(A;A) |
Significance | Pathogenic |
Disease | Alacrima |
Variation | info |
Gene | GMPPA |
CLNDBN | Alacrima, achalasia, and mental retardation syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.220370982A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000074375.2, |