rs144648002
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs144648002(C;G) |
Make rs144648002(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 116927317 |
Gene | RFX6 |
is a | snp |
is | mentioned by |
dbSNP | rs144648002 |
dbSNP (classic) | rs144648002 |
ClinGen | rs144648002 |
ebi | rs144648002 |
HLI | rs144648002 |
Exac | rs144648002 |
Gnomad | rs144648002 |
Varsome | rs144648002 |
LitVar | rs144648002 |
Map | rs144648002 |
PheGenI | rs144648002 |
Biobank | rs144648002 |
1000 genomes | rs144648002 |
hgdp | rs144648002 |
ensembl | rs144648002 |
geneview | rs144648002 |
scholar | rs144648002 |
rs144648002 | |
pharmgkb | rs144648002 |
gwascentral | rs144648002 |
openSNP | rs144648002 |
23andMe | rs144648002 |
SNPshot | rs144648002 |
SNPdbe | rs144648002 |
MSV3d | rs144648002 |
GWAS Ctlg | rs144648002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144648002(G;G) rs144648002(T;T) |
Alt | rs144648002(G;G) rs144648002(T;T) |
Reference | Rs144648002(C;C) |
Significance | Pathogenic |
Disease | Monogenic diabetes Mitchell-Riley syndrome |
Variation | info |
Gene | RFX6 |
CLNDBN | Monogenic diabetes Mitchell-Riley syndrome |
Reversed | 0 |
HGVS | NC_000006.11:g.117248480C>G; NC_000006.11:g.117248480C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000445547.1, RCV000208877.1, |