rs606231172
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs606231172(-;ACGCCGGTCACGTGGCGGGGTGGGG) |
Make rs606231172(ACGCCGGTCACGTGGCGGGGTGGGG;ACGCCGGTCACGTGGCGGGGTGGGG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 112956380 |
Gene | SLC16A1, SLC16A1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231172 |
dbSNP (classic) | rs606231172 |
ClinGen | rs606231172 |
ebi | rs606231172 |
HLI | rs606231172 |
Exac | rs606231172 |
Gnomad | rs606231172 |
Varsome | rs606231172 |
LitVar | rs606231172 |
Map | rs606231172 |
PheGenI | rs606231172 |
Biobank | rs606231172 |
1000 genomes | rs606231172 |
hgdp | rs606231172 |
ensembl | rs606231172 |
geneview | rs606231172 |
scholar | rs606231172 |
rs606231172 | |
pharmgkb | rs606231172 |
gwascentral | rs606231172 |
openSNP | rs606231172 |
23andMe | rs606231172 |
SNPshot | rs606231172 |
SNPdbe | rs606231172 |
MSV3d | rs606231172 |
GWAS Ctlg | rs606231172 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231172(ACGCCGGTCACGTGGCGGGGTGGGG;ACGCCGGTCACGTGGCGGGGTGGGG) |
Alt | rs606231172(ACGCCGGTCACGTGGCGGGGTGGGG;ACGCCGGTCACGTGGCGGGGTGGGG) |
Reference | Rs606231172(-;-) |
Significance | Pathogenic |
Disease | Exercise-induced hyperinsulinemic hypoglycemia |
Variation | info |
Gene | SLC16A1 SLC16A1-AS1 |
CLNDBN | Exercise-induced hyperinsulinemic hypoglycemia |
Reversed | 1 |
HGVS | NC_000001.10:g.113499002_113499003insCCCCACCCCGCCACGTGACCGGCGT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009472.3, |