rs28928908
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs28928908(A;A) |
Make rs28928908(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 43340096 |
Gene | MPL |
is a | snp |
is | mentioned by |
dbSNP | rs28928908 |
dbSNP (classic) | rs28928908 |
ClinGen | rs28928908 |
ebi | rs28928908 |
HLI | rs28928908 |
Exac | rs28928908 |
Gnomad | rs28928908 |
Varsome | rs28928908 |
LitVar | rs28928908 |
Map | rs28928908 |
PheGenI | rs28928908 |
Biobank | rs28928908 |
1000 genomes | rs28928908 |
hgdp | rs28928908 |
ensembl | rs28928908 |
geneview | rs28928908 |
scholar | rs28928908 |
rs28928908 | |
pharmgkb | rs28928908 |
gwascentral | rs28928908 |
openSNP | rs28928908 |
23andMe | rs28928908 |
SNPshot | rs28928908 |
SNPdbe | rs28928908 |
MSV3d | rs28928908 |
GWAS Ctlg | rs28928908 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28928908(A;A) |
Alt | rs28928908(A;A) |
Reference | Rs28928908(C;C) |
Significance | Pathogenic |
Disease | Congenital amegakaryocytic thrombocytopenia |
Variation | info |
Gene | MPL |
CLNDBN | Congenital amegakaryocytic thrombocytopenia |
Reversed | 0 |
HGVS | NC_000001.10:g.43805767C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015224.26, |