TOP3A, DNA topoisomerase III alpha, 7156

N. diseases: 52; N. variants: 9
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: rs4925166
rs4925166 		1.000 0.080 17 18307496 3 prime UTR variant T/G snv 0.45 0.73
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.710 1.000 2 2016 2019
dbSNP: rs200944917
rs200944917 		17 18305208 stop gained G/A;T snv 1.0E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs376902371
rs376902371 		1.000 17 18308367 missense variant T/C snv 6.4E-05 3.5E-05
CUI: C4748184
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 		0.700 1.000 1 2018 2018
dbSNP: rs376902371
rs376902371 		1.000 17 18308367 missense variant T/C snv 6.4E-05 3.5E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4925159
rs4925159 		17 18282196 intron variant G/A snv 0.51
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs1288928564
rs1288928564 		1.000 17 18277784 frameshift variant C/- delins 4.0E-06
CUI: C4748176
Disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 		0.700 0
dbSNP: rs1555568139
rs1555568139 		1.000 17 18278074 frameshift variant A/- delins
CUI: C4748176
Disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 		0.700 0
dbSNP: rs752838075
rs752838075 		1.000 17 18278231 frameshift variant G/-;GG delins
CUI: C4748176
Disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 		0.700 0
dbSNP: rs12945597
rs12945597 		0.925 0.080 17 18271367 downstream gene variant G/A snv 0.31
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs12945597
rs12945597 		0.925 0.080 17 18271367 downstream gene variant G/A snv 0.31
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs12945597
rs12945597 		0.925 0.080 17 18271367 downstream gene variant G/A snv 0.31
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs12945597
rs12945597 		0.925 0.080 17 18271367 downstream gene variant G/A snv 0.31
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1563634
rs1563634 		0.925 0.080 17 18315490 5 prime UTR variant T/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1563634
rs1563634 		0.925 0.080 17 18315490 5 prime UTR variant T/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1563634
rs1563634 		0.925 0.080 17 18315490 5 prime UTR variant T/C;G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1563634
rs1563634 		0.925 0.080 17 18315490 5 prime UTR variant T/C;G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2009 2009