rs227368
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 0 | |
(G;G) | 0 | common in clinvar |
Make rs227368(A;A) |
Make rs227368(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 102690688 |
Gene | MANBA |
is a | snp |
is | mentioned by |
dbSNP | rs227368 |
dbSNP (classic) | rs227368 |
ClinGen | rs227368 |
ebi | rs227368 |
HLI | rs227368 |
Exac | rs227368 |
Gnomad | rs227368 |
Varsome | rs227368 |
LitVar | rs227368 |
Map | rs227368 |
PheGenI | rs227368 |
Biobank | rs227368 |
1000 genomes | rs227368 |
hgdp | rs227368 |
ensembl | rs227368 |
geneview | rs227368 |
scholar | rs227368 |
rs227368 | |
pharmgkb | rs227368 |
gwascentral | rs227368 |
openSNP | rs227368 |
23andMe | rs227368 |
SNPshot | rs227368 |
SNPdbe | rs227368 |
MSV3d | rs227368 |
GWAS Ctlg | rs227368 |
GMAF | 0.3972 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs227368(A;A) rs227368(C;C) rs227368(T;T) |
Alt | rs227368(A;A) rs227368(C;C) rs227368(T;T) |
Reference | Rs227368(G;G) |
Significance | Non-pathogenic |
Disease | Beta-D-mannosidosis not specified |
Variation | info |
Gene | MANBA |
CLNDBN | Beta-D-mannosidosis not specified |
Reversed | 1 |
HGVS | NC_000004.11:g.103611845C>T |
CLNSRC | |
CLNACC | RCV000354084.1, RCV000454742.1, |