rs28933985
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | |
(G;G) | 0 | common in clinvar |
Make rs28933985(A;A) |
Make rs28933985(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2159919 |
Gene | INS, INS-IGF2 |
is a | snp |
is | mentioned by |
dbSNP | rs28933985 |
dbSNP (classic) | rs28933985 |
ClinGen | rs28933985 |
ebi | rs28933985 |
HLI | rs28933985 |
Exac | rs28933985 |
Gnomad | rs28933985 |
Varsome | rs28933985 |
LitVar | rs28933985 |
Map | rs28933985 |
PheGenI | rs28933985 |
Biobank | rs28933985 |
1000 genomes | rs28933985 |
hgdp | rs28933985 |
ensembl | rs28933985 |
geneview | rs28933985 |
scholar | rs28933985 |
rs28933985 | |
pharmgkb | rs28933985 |
gwascentral | rs28933985 |
openSNP | rs28933985 |
23andMe | rs28933985 |
SNPshot | rs28933985 |
SNPdbe | rs28933985 |
MSV3d | rs28933985 |
GWAS Ctlg | rs28933985 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs28933985(A;A) Rs28933985(C;C) rs28933985(T;T) |
Alt | rs28933985(A;A) Rs28933985(C;C) rs28933985(T;T) |
Reference | Rs28933985(G;G) |
Significance | Pathogenic |
Disease | Hyperproinsulinemia |
Variation | info |
Gene | INS IGF2 INS-IGF2 |
CLNDBN | Hyperproinsulinemia |
Reversed | 1 |
HGVS | NC_000011.9:g.2181149C>A; NC_000011.9:g.2181149C>G; NC_000011.9:g.2181149C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014313.25, RCV000014315.25, RCV000014310.25, |