IDE, insulin degrading enzyme, 3416

N. diseases: 71; N. variants: 19
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: rs6583817
rs6583817
0.925 0.160 10 92487490 intron variant C/T snv 0.18
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs7100623
rs7100623
1.000 0.080 10 92567399 intron variant T/C snv 0.85
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1887922
rs1887922
0.851 0.240 10 92464408 intron variant C/T snv 0.85
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1999764
rs1999764
1.000 0.080 10 92560382 intron variant T/C snv 0.10
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs139550538
rs139550538
0.827 0.080 10 92524312 intron variant T/A snv 1.9E-02
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
0.700 1.000 1 2016 2016
dbSNP: rs139550538
rs139550538
0.827 0.080 10 92524312 intron variant T/A snv 1.9E-02
Amyotrophic Lateral Sclerosis, Sporadic
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs139550538
rs139550538
0.827 0.080 10 92524312 intron variant T/A snv 1.9E-02
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs139550538
rs139550538
0.827 0.080 10 92524312 intron variant T/A snv 1.9E-02
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
0.700 1.000 1 2016 2016
dbSNP: rs139550538
rs139550538
0.827 0.080 10 92524312 intron variant T/A snv 1.9E-02
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs5786996
rs5786996
1.000 0.080 10 92452778 3 prime UTR variant -/G delins 3.4E-02
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017