rs75225191
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs75225191(C;T) |
Make rs75225191(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 43114541 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs75225191 |
dbSNP (classic) | rs75225191 |
ClinGen | rs75225191 |
ebi | rs75225191 |
HLI | rs75225191 |
Exac | rs75225191 |
Gnomad | rs75225191 |
Varsome | rs75225191 |
LitVar | rs75225191 |
Map | rs75225191 |
PheGenI | rs75225191 |
Biobank | rs75225191 |
1000 genomes | rs75225191 |
hgdp | rs75225191 |
ensembl | rs75225191 |
geneview | rs75225191 |
scholar | rs75225191 |
rs75225191 | |
pharmgkb | rs75225191 |
gwascentral | rs75225191 |
openSNP | rs75225191 |
23andMe | rs75225191 |
SNPshot | rs75225191 |
SNPdbe | rs75225191 |
MSV3d | rs75225191 |
GWAS Ctlg | rs75225191 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs75225191(T;T) |
Alt | rs75225191(T;T) |
Reference | Rs75225191(C;C) |
Significance | Other |
Disease | Hirschsprung disease 1 Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | RET |
CLNDBN | Hirschsprung disease 1 Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.43609989C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014966.2, RCV000204407.1, RCV000220871.1, |
[PMID 8084609] DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.