RPS6KA1, ribosomal protein S6 kinase A1, 6195

N. diseases: 68; N. variants: 6
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1002487
rs1002487 		1 26539480 intron variant T/C snv 5.3E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs17162190
rs17162190 		1 26546341 intron variant G/A snv 0.21
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs4970485
rs4970485 		1 26544709 intron variant C/T snv 0.21
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs6670311
rs6670311 		1.000 0.040 1 26538994 intron variant C/G snv 4.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6670311
rs6670311 		1.000 0.040 1 26538994 intron variant C/G snv 4.4E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6685701
rs6685701 		1.000 0.040 1 26542148 intron variant A/G snv 0.77
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2229712
rs2229712 		0.925 0.080 1 26557020 missense variant A/C snv 0.22 0.17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs2229712
rs2229712 		0.925 0.080 1 26557020 missense variant A/C snv 0.22 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2018 2018