rs104894186
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894186(C;T) |
Make rs104894186(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 23193805 |
Gene | PTF1A |
is a | snp |
is | mentioned by |
dbSNP | rs104894186 |
dbSNP (classic) | rs104894186 |
ClinGen | rs104894186 |
ebi | rs104894186 |
HLI | rs104894186 |
Exac | rs104894186 |
Gnomad | rs104894186 |
Varsome | rs104894186 |
LitVar | rs104894186 |
Map | rs104894186 |
PheGenI | rs104894186 |
Biobank | rs104894186 |
1000 genomes | rs104894186 |
hgdp | rs104894186 |
ensembl | rs104894186 |
geneview | rs104894186 |
scholar | rs104894186 |
rs104894186 | |
pharmgkb | rs104894186 |
gwascentral | rs104894186 |
openSNP | rs104894186 |
23andMe | rs104894186 |
SNPshot | rs104894186 |
SNPdbe | rs104894186 |
MSV3d | rs104894186 |
GWAS Ctlg | rs104894186 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894186(T;T) |
Alt | rs104894186(T;T) |
Reference | Rs104894186(C;C) |
Significance | Pathogenic |
Disease | Diabetes mellitus |
Variation | info |
Gene | PTF1A |
CLNDBN | Diabetes mellitus, permanent neonatal, with cerebellar agenesis |
Reversed | 0 |
HGVS | NC_000010.10:g.23482734C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003594.2, |