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: rs1553238271
rs1553238271 		1.000 1 7661827 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 8 2006 2015
dbSNP: rs1553238271
rs1553238271 		1.000 1 7661827 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2006 2015
dbSNP: rs1193179
rs1193179 		1.000 0.080 1 7509542 intron variant C/T snv 0.62
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs10864302
rs10864302 		1.000 0.040 1 7427217 intron variant C/T snv 0.25
CUI: C1863416
Disease: Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant compelling helio ophthalmic outburst syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs11120822
rs11120822 		1 7053052 intron variant G/C snv 0.34
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		0.700 1.000 1 2013 2013
dbSNP: rs11120822
rs11120822 		1 7053052 intron variant G/C snv 0.34
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2013 2013
dbSNP: rs11121012
rs11121012 		1 7734229 intron variant A/G snv 0.62
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs11121012
rs11121012 		1 7734229 intron variant A/G snv 0.62
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs112193369
rs112193369 		1.000 0.080 1 7498191 intron variant -/AGTGTG;AGTGTGTG;AGTGTTGGTG;AGTGTTGGTGTG;AGTGTTGGTGTGTG;GGTG delins
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2020 2020
dbSNP: rs1135401818
rs1135401818 		1.000 1 7677682 missense variant C/T snv
CUI: C3553661
Disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 		0.700 1.000 1 2015 2015
dbSNP: rs12128526
rs12128526 		1 7663897 synonymous variant G/A;C snv 0.45; 4.0E-06
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs12137398
rs12137398 		1.000 0.040 1 7730488 intron variant C/T snv 0.14
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs12137398
rs12137398 		1.000 0.040 1 7730488 intron variant C/T snv 0.14
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs12563101
rs12563101 		1 7717613 intron variant G/A snv 0.13
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs185305928
rs185305928 		1.000 0.080 1 6845651 intron variant G/A snv 9.3E-03
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		Digestive System Diseases; Chemically-Induced Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1891215
rs1891215 		1 7667794 intron variant T/C snv 0.46
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs2412208
rs2412208 		0.827 0.080 1 7032722 intron variant T/G snv 0.33
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2412208
rs2412208 		0.827 0.080 1 7032722 intron variant T/G snv 0.33
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs2412208
rs2412208 		0.827 0.080 1 7032722 intron variant T/G snv 0.33
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: rs2412208
rs2412208 		0.827 0.080 1 7032722 intron variant T/G snv 0.33
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2016 2016
dbSNP: rs4908678
rs4908678 		1 7679190 intron variant T/C snv 0.36
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs6691442
rs6691442 		1 6900136 intron variant G/A snv 0.52
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs7512599
rs7512599 		1.000 0.040 1 7255971 intron variant G/A snv 0.67
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs7534398
rs7534398 		1 7707404 intron variant T/A snv 0.15
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2019 2019
dbSNP: rs7547519
rs7547519 		1 7256076 intron variant A/G snv 0.76
CUI: C0561843
Disease: Memory, Episodic
Memory, Episodic 		0.700 1.000 1 2007 2007