SIRT3, sirtuin 3, 23410

N. diseases: 227; 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: rs507139
rs507139 		1.000 11 225196 intron variant G/A snv 5.8E-02
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2018 2018
dbSNP: rs507139
rs507139 		1.000 11 225196 intron variant G/A snv 5.8E-02
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs547025
rs547025 		1.000 11 232855 intron variant T/C snv 5.8E-02
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs547025
rs547025 		1.000 11 232855 intron variant T/C snv 5.8E-02
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2019 2019
dbSNP: rs7104764
rs7104764 		11 229977 intron variant G/A;C snv
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2014 2014
dbSNP: rs9795476
rs9795476 		11 235894 intron variant T/G snv 0.79
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs12363280
rs12363280 		11 231980 intron variant C/A;G snv
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs181924090
rs181924090 		1.000 0.080 11 218874 stop gained C/G;T snv 5.0E-04 2.4E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs181924090
rs181924090 		1.000 0.080 11 218874 stop gained C/G;T snv 5.0E-04 2.4E-04
CUI: C0022548
Disease: Keloid
Keloid 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3782116
rs3782116 		0.925 0.040 11 223119 3 prime UTR variant T/C snv 0.74
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3782116
rs3782116 		0.925 0.040 11 223119 3 prime UTR variant T/C snv 0.74
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3817629
rs3817629 		1.000 0.040 11 237312 intron variant T/C snv 0.80
CUI: C2063866
Disease: Depressive Disorder, Treatment-Resistant
Depressive Disorder, Treatment-Resistant 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs6598072
rs6598072 		0.925 0.040 11 219793 intron variant C/T snv 0.79
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs6598072
rs6598072 		0.925 0.040 11 219793 intron variant C/T snv 0.79
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs71019893
rs71019893 		1.000 0.080 11 236380 intron variant -/CCCGCGGC ins 5.0E-03; 0.10 1.6E-04
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs748705829
rs748705829 		11 233109 missense variant T/C snv 8.0E-06
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.010 1.000 1 2017 2017