SKIV2L, Ski2 like RNA helicase, 6499

N. diseases: 96; N. variants: 24
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: rs1562659544
rs1562659544 		1.000 6 31963721 frameshift variant -/A ins
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.700 0
dbSNP: rs557829269
rs557829269 		1.000 0.080 6 31966801 missense variant G/A snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs751026211
rs751026211 		1.000 6 31961605 stop gained G/A snv 1.6E-05 2.1E-05
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.700 0
dbSNP: rs768503878
rs768503878 		1.000 6 31961354 stop gained C/T snv 1.9E-05 2.1E-05
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.700 0
dbSNP: rs781763471
rs781763471 		1.000 6 31967002 splice acceptor variant A/G snv 1.2E-05 7.0E-06
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.700 0
dbSNP: rs406936
rs406936 		0.882 0.240 6 31965384 intron variant G/A snv 0.19
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs454212
rs454212 		0.925 0.200 6 31966595 intron variant C/T snv 0.19
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs492899
rs492899 		0.882 0.240 6 31965741 intron variant T/C snv 0.12 0.15
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs437179
rs437179 		0.882 0.160 6 31961237 missense variant A/C snv 0.76 0.78
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs34241101
rs34241101 		1.000 6 31968280 non coding transcript exon variant G/T snv 7.2E-02 8.7E-02
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2010 2010
dbSNP: rs34241101
rs34241101 		1.000 6 31968280 non coding transcript exon variant G/T snv 7.2E-02 8.7E-02
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2010 2010
dbSNP: rs34241101
rs34241101 		1.000 6 31968280 non coding transcript exon variant G/T snv 7.2E-02 8.7E-02
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs34241101
rs34241101 		1.000 6 31968280 non coding transcript exon variant G/T snv 7.2E-02 8.7E-02
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs401775
rs401775 		1.000 6 31963360 intron variant T/C snv 0.23
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs401775
rs401775 		1.000 6 31963360 intron variant T/C snv 0.23
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs401775
rs401775 		1.000 6 31963360 intron variant T/C snv 0.23
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2010 2010
dbSNP: rs401775
rs401775 		1.000 6 31963360 intron variant T/C snv 0.23
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2010 2010
dbSNP: rs437179
rs437179 		0.882 0.160 6 31961237 missense variant A/C snv 0.76 0.78
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs406936
rs406936 		0.882 0.240 6 31965384 intron variant G/A snv 0.19
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs438999
rs438999 		0.925 0.160 6 31960529 missense variant A/G snv 9.7E-02 0.12
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs454212
rs454212 		0.925 0.200 6 31966595 intron variant C/T snv 0.19
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs419788
rs419788 		1.000 0.120 6 31961022 intron variant T/A;C snv 0.76
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs440454
rs440454 		1.000 0.120 6 31959565 non coding transcript exon variant A/G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs281875237
rs281875237 		1.000 6 31962012 missense variant T/G snv
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.800 1.000 1 2012 2012
dbSNP: rs438999
rs438999 		0.925 0.160 6 31960529 missense variant A/G snv 9.7E-02 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2012 2012