RPS6KA1, ribosomal protein S6 kinase A1, 6195

N. diseases: 68; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4970485
rs4970485
Entrez Id: 6195
Gene Symbol: RPS6KA1
RPS6KA1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1002487
rs1002487
Entrez Id: 6195
Gene Symbol: RPS6KA1
RPS6KA1
CUI: C0202236
Disease:
Triglycerides measurement 		C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population. 30108155 2018
dbSNP: rs6670311
rs6670311
Entrez Id: 6195
Gene Symbol: RPS6KA1
RPS6KA1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs6685701
rs6685701
Entrez Id: 6195
Gene Symbol: RPS6KA1
RPS6KA1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs6685701
rs6685701
Entrez Id: 6195
Gene Symbol: RPS6KA1
RPS6KA1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs17162190
rs17162190
Entrez Id: 6195
Gene Symbol: RPS6KA1
RPS6KA1
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs6670311
rs6670311
Entrez Id: 6195
Gene Symbol: RPS6KA1
RPS6KA1
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs2229712
rs2229712
Entrez Id: 6195
Gene Symbol: RPS6KA1
RPS6KA1
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE The number of deliveries had a dose-response protective effect on breast cancer; women carrying C allele in rs2229712 did not benefit from this protective effect. 29530003 2018
dbSNP: rs2229712
rs2229712
Entrez Id: 6195
Gene Symbol: RPS6KA1
RPS6KA1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE The number of deliveries had a dose-response protective effect on breast cancer; women carrying C allele in rs2229712 did not benefit from this protective effect. 29530003 2018