rs797045623
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797045623(A;A) |
Make rs797045623(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 2160028 |
Gene | INS, INS-IGF2 |
is a | snp |
is | mentioned by |
dbSNP | rs797045623 |
dbSNP (classic) | rs797045623 |
ClinGen | rs797045623 |
ebi | rs797045623 |
HLI | rs797045623 |
Exac | rs797045623 |
Gnomad | rs797045623 |
Varsome | rs797045623 |
LitVar | rs797045623 |
Map | rs797045623 |
PheGenI | rs797045623 |
Biobank | rs797045623 |
1000 genomes | rs797045623 |
hgdp | rs797045623 |
ensembl | rs797045623 |
geneview | rs797045623 |
scholar | rs797045623 |
rs797045623 | |
pharmgkb | rs797045623 |
gwascentral | rs797045623 |
openSNP | rs797045623 |
23andMe | rs797045623 |
SNPshot | rs797045623 |
SNPdbe | rs797045623 |
MSV3d | rs797045623 |
GWAS Ctlg | rs797045623 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045623(A;A) |
Alt | rs797045623(A;A) |
Reference | Rs797045623(G;G) |
Significance | Pathogenic |
Disease | Permanent neonatal diabetes mellitus not provided |
Variation | info |
Gene | INS IGF2 INS-IGF2 |
CLNDBN | Permanent neonatal diabetes mellitus not provided |
Reversed | 1 |
HGVS | NC_000011.9:g.2181258C>T |
CLNSRC | |
CLNACC | RCV000193144.1, RCV000436891.1, |