rs202080221
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs202080221(C;C) |
Make rs202080221(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 111418767 |
Gene | SH2B3 |
is a | snp |
is | mentioned by |
dbSNP | rs202080221 |
dbSNP (classic) | rs202080221 |
ClinGen | rs202080221 |
ebi | rs202080221 |
HLI | rs202080221 |
Exac | rs202080221 |
Gnomad | rs202080221 |
Varsome | rs202080221 |
LitVar | rs202080221 |
Map | rs202080221 |
PheGenI | rs202080221 |
Biobank | rs202080221 |
1000 genomes | rs202080221 |
hgdp | rs202080221 |
ensembl | rs202080221 |
geneview | rs202080221 |
scholar | rs202080221 |
rs202080221 | |
pharmgkb | rs202080221 |
gwascentral | rs202080221 |
openSNP | rs202080221 |
23andMe | rs202080221 |
SNPshot | rs202080221 |
SNPdbe | rs202080221 |
MSV3d | rs202080221 |
GWAS Ctlg | rs202080221 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202080221(C;C) rs202080221(T;T) |
Alt | rs202080221(C;C) rs202080221(T;T) |
Reference | Rs202080221(G;G) |
Significance | Other |
Disease | Essential thrombocythemia Familial erythrocytosis |
Variation | info |
Gene | SH2B3 |
CLNDBN | Essential thrombocythemia Familial erythrocytosis, 1 |
Reversed | 0 |
HGVS | NC_000012.11:g.111856571G>C; NC_000012.11:g.111856571G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023398.4, RCV000023399.5, |