rs104894481
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104894481(C;C) |
Make rs104894481(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 44711577 |
Gene | B2M, LOC102724979, PATL2 |
is a | snp |
is | mentioned by |
dbSNP | rs104894481 |
dbSNP (classic) | rs104894481 |
ClinGen | rs104894481 |
ebi | rs104894481 |
HLI | rs104894481 |
Exac | rs104894481 |
Gnomad | rs104894481 |
Varsome | rs104894481 |
LitVar | rs104894481 |
Map | rs104894481 |
PheGenI | rs104894481 |
Biobank | rs104894481 |
1000 genomes | rs104894481 |
hgdp | rs104894481 |
ensembl | rs104894481 |
geneview | rs104894481 |
scholar | rs104894481 |
rs104894481 | |
pharmgkb | rs104894481 |
gwascentral | rs104894481 |
openSNP | rs104894481 |
23andMe | rs104894481 |
SNPshot | rs104894481 |
SNPdbe | rs104894481 |
MSV3d | rs104894481 |
GWAS Ctlg | rs104894481 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894481(C;C) rs104894481(T;T) |
Alt | rs104894481(C;C) rs104894481(T;T) |
Reference | Rs104894481(G;G) |
Significance | Pathogenic |
Disease | Hypoproteinemia |
Variation | info |
Gene | B2M |
CLNDBN | Hypoproteinemia, hypercatabolic |
Reversed | 0 |
HGVS | NC_000015.9:g.45003775G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019314.25, |