rs1060500186
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGAC;GGAC) | 0 | common in clinvar |
Make rs1060500186(-;-) |
Make rs1060500186(-;GACG) |
Make rs1060500186(GACG;GACG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 12717888 |
Gene | CDKN1B, GPR19 |
is a | snp |
is | mentioned by |
dbSNP | rs1060500186 |
dbSNP (classic) | rs1060500186 |
ClinGen | rs1060500186 |
ebi | rs1060500186 |
HLI | rs1060500186 |
Exac | rs1060500186 |
Gnomad | rs1060500186 |
Varsome | rs1060500186 |
LitVar | rs1060500186 |
Map | rs1060500186 |
PheGenI | rs1060500186 |
Biobank | rs1060500186 |
1000 genomes | rs1060500186 |
hgdp | rs1060500186 |
ensembl | rs1060500186 |
geneview | rs1060500186 |
scholar | rs1060500186 |
rs1060500186 | |
pharmgkb | rs1060500186 |
gwascentral | rs1060500186 |
openSNP | rs1060500186 |
23andMe | rs1060500186 |
SNPshot | rs1060500186 |
SNPdbe | rs1060500186 |
MSV3d | rs1060500186 |
GWAS Ctlg | rs1060500186 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500186(-;-) |
Alt | rs1060500186(-;-) |
Reference | Rs1060500186(GGAC;GGAC) |
Significance | Pathogenic |
Disease | Multiple endocrine neoplasia |
Variation | info |
Gene | CDKN1B |
CLNDBN | Multiple endocrine neoplasia, type 4 |
Reversed | 0 |
HGVS | NC_000012.11:g.12870822_12870825delGACG |
CLNSRC | |
CLNACC | RCV000464377.1, |