rs34682185
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs34682185(A;A) |
Make rs34682185(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 43106382 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs34682185 |
dbSNP (classic) | rs34682185 |
ClinGen | rs34682185 |
ebi | rs34682185 |
HLI | rs34682185 |
Exac | rs34682185 |
Gnomad | rs34682185 |
Varsome | rs34682185 |
LitVar | rs34682185 |
Map | rs34682185 |
PheGenI | rs34682185 |
Biobank | rs34682185 |
1000 genomes | rs34682185 |
hgdp | rs34682185 |
ensembl | rs34682185 |
geneview | rs34682185 |
scholar | rs34682185 |
rs34682185 | |
pharmgkb | rs34682185 |
gwascentral | rs34682185 |
openSNP | rs34682185 |
23andMe | rs34682185 |
SNPshot | rs34682185 |
SNPdbe | rs34682185 |
MSV3d | rs34682185 |
GWAS Ctlg | rs34682185 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34682185(A;A) |
Alt | rs34682185(A;A) |
Reference | Rs34682185(G;G) |
Significance | Pathogenic |
Disease | Multiple endocrine neoplasia not provided not specified Multiple endocrine neoplasia Pheochromocytoma Hirschsprung Disease Renal adysplasia Multiple endocrine neoplasia |
Variation | info |
Gene | RET |
CLNDBN | Multiple endocrine neoplasia, type 2a not provided not specified Multiple endocrine neoplasia, type 2 Pheochromocytoma Hirschsprung Disease, Dominant Renal adysplasia Multiple endocrine neoplasia |
Reversed | 0 |
HGVS | NC_000010.10:g.43601830G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000021761.1, RCV000034779.1, RCV000121992.1, RCV000167929.5, RCV000276548.1, RCV000333869.1, RCV000354891.1, RCV000367517.1, |