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: rs119458970
rs119458970
0.925 0.080 15 76274431 missense variant G/A snv 4.4E-05 7.7E-05
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 1992 2016
dbSNP: rs1914816
rs1914816
1.000 0.120 15 76254592 intron variant G/A;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs1801591
rs1801591
0.882 0.040 15 76286421 missense variant G/A snv 7.4E-02 6.4E-02
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.710 1.000 2 2015 2017
dbSNP: rs1801591
rs1801591
0.882 0.040 15 76286421 missense variant G/A snv 7.4E-02 6.4E-02
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs77633900
rs77633900
1.000 0.040 15 76246118 intron variant G/C snv 6.3E-02
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs77633900
rs77633900
1.000 0.040 15 76246118 intron variant G/C snv 6.3E-02
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs119458969
rs119458969
0.925 0.080 15 76286463 missense variant A/C snv 2.0E-05 7.0E-06
CUI: C3278154
Disease: GLUTARIC ACIDEMIA IIA
GLUTARIC ACIDEMIA IIA
0.700 0
dbSNP: rs119458969
rs119458969
0.925 0.080 15 76286463 missense variant A/C snv 2.0E-05 7.0E-06
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs119458970
rs119458970
0.925 0.080 15 76274431 missense variant G/A snv 4.4E-05 7.7E-05
CUI: C3278154
Disease: GLUTARIC ACIDEMIA IIA
GLUTARIC ACIDEMIA IIA
0.700 0
dbSNP: rs119458971
rs119458971
0.925 0.080 15 76292436 missense variant C/T snv 1.2E-05 2.8E-05
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs119458971
rs119458971
0.925 0.080 15 76292436 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C3278154
Disease: GLUTARIC ACIDEMIA IIA
GLUTARIC ACIDEMIA IIA
0.700 0
dbSNP: rs1298299792
rs1298299792
1.000 0.080 15 76286437 frameshift variant AC/- delins 1.2E-05
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1801591
rs1801591
0.882 0.040 15 76286421 missense variant G/A snv 7.4E-02 6.4E-02
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1801591
rs1801591
0.882 0.040 15 76286421 missense variant G/A snv 7.4E-02 6.4E-02
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs775043427
rs775043427
15 76286465 synonymous variant T/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2012 2012