rs1057516459
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GCACCACAGC;GCACCACAGC) | 0 | common in clinvar |
Make rs1057516459(-;-) |
Make rs1057516459(-;GCACCACAGC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 12655741 |
Gene | MAN2B1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516459 |
dbSNP (classic) | rs1057516459 |
ClinGen | rs1057516459 |
ebi | rs1057516459 |
HLI | rs1057516459 |
Exac | rs1057516459 |
Gnomad | rs1057516459 |
Varsome | rs1057516459 |
LitVar | rs1057516459 |
Map | rs1057516459 |
PheGenI | rs1057516459 |
Biobank | rs1057516459 |
1000 genomes | rs1057516459 |
hgdp | rs1057516459 |
ensembl | rs1057516459 |
geneview | rs1057516459 |
scholar | rs1057516459 |
rs1057516459 | |
pharmgkb | rs1057516459 |
gwascentral | rs1057516459 |
openSNP | rs1057516459 |
23andMe | rs1057516459 |
SNPshot | rs1057516459 |
SNPdbe | rs1057516459 |
MSV3d | rs1057516459 |
GWAS Ctlg | rs1057516459 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516459(-;-) |
Alt | rs1057516459(-;-) |
Reference | Rs1057516459(GCACCACAGC;GCACCACAGC) |
Significance | Probable-Pathogenic |
Disease | Deficiency of alpha-mannosidase |
Variation | info |
Gene | MAN2B1 |
CLNDBN | Deficiency of alpha-mannosidase |
Reversed | 1 |
HGVS | NC_000019.9:g.12766555_12766564delGCTGTGGTGC |
CLNSRC | |
CLNACC | RCV000409995.1, |