rs137852884
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 6.1 | Mucolipidosis III gamma |
(A;G) | 3 | Carrier of a mucolipidosis III gamma mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 1362053 |
Gene | GNPTG |
is a | snp |
is | mentioned by |
dbSNP | rs137852884 |
dbSNP (classic) | rs137852884 |
ClinGen | rs137852884 |
ebi | rs137852884 |
HLI | rs137852884 |
Exac | rs137852884 |
Gnomad | rs137852884 |
Varsome | rs137852884 |
LitVar | rs137852884 |
Map | rs137852884 |
PheGenI | rs137852884 |
Biobank | rs137852884 |
1000 genomes | rs137852884 |
hgdp | rs137852884 |
ensembl | rs137852884 |
geneview | rs137852884 |
scholar | rs137852884 |
rs137852884 | |
pharmgkb | rs137852884 |
gwascentral | rs137852884 |
openSNP | rs137852884 |
23andMe | rs137852884 |
SNPshot | rs137852884 |
SNPdbe | rs137852884 |
MSV3d | rs137852884 |
GWAS Ctlg | rs137852884 |
Max Magnitude | 6.1 |
c.333G>A (p.Trp111Ter)
23andMe name: i5005419
ClinVar | |
---|---|
Risk | Rs137852884(A;A) |
Alt | Rs137852884(A;A) |
Reference | Rs137852884(G;G) |
Significance | Pathogenic |
Disease | Mucolipidosis III Gamma |
Variation | info |
Gene | GNPTG |
CLNDBN | Mucolipidosis III Gamma |
Reversed | 0 |
HGVS | NC_000016.9:g.1412054G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002931.3, |