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RPH3A c.*1146G>T
Variant ID: 12-113335731-G-T
NM_001143854.1(
RPH3A
):c.*1146G>T
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.
Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10
Variant appearance in text: rs2240191
PubMed Link:
29221171
Variant Present in the following documents:
oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page
Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.
Genes And Immunity
Howson, J M M JM; Walker, N M NM; Smyth, D J DJ; Todd, J A JA; ,
Publication Date: 2009-12
Variant appearance in text: rs2240191
PubMed Link:
19956106
Variant Present in the following documents:
Main text
View BVdb publication page
Reassessment of the type I diabetes association of the OAS1 locus.
Genes And Immunity
Qu, H-Q HQ; Polychronakos, C C; ,
Publication Date: 2009-12
Variant appearance in text: rs2240191
PubMed Link:
19956105
Variant Present in the following documents:
Main text
View BVdb publication page
Overview of the Rapid Response data.
Genes And Immunity
Brown, W M WM; Pierce, J J JJ; Hilner, J E JE; Perdue, L H LH; Lohman, K K; Lu, L L; de Bakker, P I W PI; Irenze, K K; Ziaugra, L L; Mirel, D B DB; ,
Publication Date: 2009-12
Variant appearance in text: rs2240191
PubMed Link:
19956101
Variant Present in the following documents:
Main text
View BVdb publication page