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: rs546968533
rs546968533 		1.000 13 25553863 missense variant C/G;T snv 8.8E-05
CUI: C3808977
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 		0.800 1.000 1 2013 2013
dbSNP: rs7322916
rs7322916 		13 25433839 intron variant G/A;C snv
CUI: C0013473
Disease: Eating Disorders
Eating Disorders 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs1156904586
rs1156904586 		1.000 13 25577115 frameshift variant -/T delins 1.4E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 5 2012 2017
dbSNP: rs1156904586
rs1156904586 		1.000 13 25577115 frameshift variant -/T delins 1.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 5 2012 2017
dbSNP: rs10162249
rs10162249 		1.000 0.040 13 25849519 intron variant T/C snv 0.14
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs10467674
rs10467674 		1.000 0.040 13 25854100 intron variant T/A snv 0.14
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs112198380
rs112198380 		1.000 0.040 13 25855238 intron variant A/G snv 0.14
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs12020004
rs12020004 		1.000 0.040 13 25851513 intron variant G/A snv 0.13
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3117848
rs3117848 		1.000 0.040 13 25725075 intron variant G/A snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3117849
rs3117849 		1.000 0.040 13 25725041 intron variant G/A snv 3.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3132364
rs3132364 		1.000 0.040 13 25725676 intron variant A/G snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4770891
rs4770891 		13 25983588 intron variant C/G snv 8.0E-02
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		0.700 1.000 1 2018 2018
dbSNP: rs61949368
rs61949368 		1.000 0.040 13 25854979 intron variant G/A snv 0.13
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs7322916
rs7322916 		13 25433839 intron variant G/A;C snv
CUI: C0029587
Disease: Other eating disorders
Other eating disorders 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs7335338
rs7335338 		13 25668367 intron variant T/A;C snv
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9319247
rs9319247 		1.000 0.040 13 25848959 intron variant T/C;G snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9319248
rs9319248 		1.000 0.040 13 25849030 intron variant C/A snv 0.13
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9319249
rs9319249 		1.000 0.040 13 25854051 intron variant T/C snv 0.14
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9319250
rs9319250 		1.000 0.040 13 25854469 intron variant T/C;G snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9507586
rs9507586 		1.000 0.040 13 25852156 intron variant A/T snv 0.14
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9507587
rs9507587 		1.000 0.040 13 25852362 intron variant G/A snv 0.14
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9507588
rs9507588 		1.000 0.040 13 25852698 intron variant C/T snv 0.14
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9507589
rs9507589 		1.000 0.040 13 25852835 intron variant T/C snv 0.13
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9511937
rs9511937 		1.000 0.040 13 25849760 intron variant G/A;T snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9511938
rs9511938 		1.000 0.040 13 25849774 intron variant A/G snv 0.14
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012