rs121913160
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121913160(A;G) |
Make rs121913160(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 7170648 |
Gene | INSR |
is a | snp |
is | mentioned by |
dbSNP | rs121913160 |
dbSNP (classic) | rs121913160 |
ClinGen | rs121913160 |
ebi | rs121913160 |
HLI | rs121913160 |
Exac | rs121913160 |
Gnomad | rs121913160 |
Varsome | rs121913160 |
LitVar | rs121913160 |
Map | rs121913160 |
PheGenI | rs121913160 |
Biobank | rs121913160 |
1000 genomes | rs121913160 |
hgdp | rs121913160 |
ensembl | rs121913160 |
geneview | rs121913160 |
scholar | rs121913160 |
rs121913160 | |
pharmgkb | rs121913160 |
gwascentral | rs121913160 |
openSNP | rs121913160 |
23andMe | rs121913160 |
SNPshot | rs121913160 |
SNPdbe | rs121913160 |
MSV3d | rs121913160 |
GWAS Ctlg | rs121913160 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913160(G;G) |
Alt | rs121913160(G;G) |
Reference | Rs121913160(A;A) |
Significance | Pathogenic |
Disease | Leprechaunism syndrome |
Variation | info |
Gene | INSR |
CLNDBN | Leprechaunism syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.7170659T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015829.29, |