IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
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: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.800 1.000 49 2009 2019
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.800 0.977 43 2010 2020
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.800 0.923 13 2009 2018
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.790 1.000 11 2010 2018
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.760 0.923 13 2009 2019
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.740 1.000 10 2009 2016
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.720 1.000 4 2009 2014
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.720 1.000 2 2011 2012
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.710 1.000 2 2012 2016
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 2 2016 2017
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.710 1.000 2 2011 2016
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.710 1.000 2 2016 2018
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 1 2014 2014
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499 		0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016