AGO2, argonaute RISC catalytic component 2, 27161

N. diseases: 186; N. variants: 11
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: rs11783023
rs11783023 		1.000 0.040 8 140629163 intron variant C/T snv 0.70
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2944772
rs2944772 		8 140538320 intron variant C/G snv 0.22
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2977464
rs2977464 		8 140535094 intron variant C/T snv 0.24
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2977479
rs2977479 		8 140548533 intron variant G/C snv 0.63
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6578125
rs6578125 		8 140618442 intron variant C/T snv 0.93
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs11166985
rs11166985 		1.000 0.120 8 140634077 intron variant A/G snv 0.71
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2292779
rs2292779 		0.851 0.320 8 140551294 intron variant G/C;T snv 0.57; 4.9E-06
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2292779
rs2292779 		0.851 0.320 8 140551294 intron variant G/C;T snv 0.57; 4.9E-06
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2292779
rs2292779 		0.851 0.320 8 140551294 intron variant G/C;T snv 0.57; 4.9E-06
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2292779
rs2292779 		0.851 0.320 8 140551294 intron variant G/C;T snv 0.57; 4.9E-06
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs3864659
rs3864659 		0.925 0.080 8 140545763 intron variant A/C snv 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3864659
rs3864659 		0.925 0.080 8 140545763 intron variant A/C snv 0.16
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs3864659
rs3864659 		0.925 0.080 8 140545763 intron variant A/C snv 0.16
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs3864659
rs3864659 		0.925 0.080 8 140545763 intron variant A/C snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3928672
rs3928672 		1.000 0.120 8 140562068 intron variant C/A;T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4961280
rs4961280 		0.882 0.160 8 140637315 non coding transcript exon variant C/A;T snv
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs4961280
rs4961280 		0.882 0.160 8 140637315 non coding transcript exon variant C/A;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4961280
rs4961280 		0.882 0.160 8 140637315 non coding transcript exon variant C/A;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs7005286
rs7005286 		1.000 0.080 8 140584361 intron variant T/C snv 0.86
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2013 2013