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: rs121917819
rs121917819 		1.000 0.040 6 31116972 stop gained G/A;C snv
CUI: C1840299
Disease: Hypotrichosis Simplex of Scalp
Hypotrichosis Simplex of Scalp 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121917820
rs121917820 		0.925 0.040 6 31117017 stop gained G/A snv
CUI: C1840299
Disease: Hypotrichosis Simplex of Scalp
Hypotrichosis Simplex of Scalp 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs387906841
rs387906841 		1.000 0.080 6 31117440 stop gained T/A snv 6.1E-06 4.2E-05
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs606231274
rs606231274 		1.000 0.080 6 31117447 frameshift variant -/CAGG delins 3.1E-05 7.0E-06
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs606231275
rs606231275 		1.000 0.080 6 31117191 stop gained C/A snv
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs672601343
rs672601343 		1.000 0.080 6 31116869 frameshift variant C/- delins
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1265097
rs1265097 		6 31138682 missense variant C/A;T snv 0.13; 4.0E-06
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 3 2014 2019
dbSNP: rs149979052
rs149979052 		1.000 0.040 6 31137370 intron variant C/T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 2 2017 2019
dbSNP: rs1966
rs1966 		1.000 0.120 6 31139956 3 prime UTR variant C/T snv 0.23 0.21
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: rs2285803
rs2285803 		0.925 0.160 6 31139481 intron variant T/C snv 0.72
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.810 1.000 2 2013 2014
dbSNP: rs3094212
rs3094212 		1.000 6 31117993 non coding transcript exon variant G/A snv 0.58
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs3094212
rs3094212 		1.000 6 31117993 non coding transcript exon variant G/A snv 0.58
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs3094212
rs3094212 		1.000 6 31117993 non coding transcript exon variant G/A snv 0.58
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 2 2009 2010
dbSNP: rs3094212
rs3094212 		1.000 6 31117993 non coding transcript exon variant G/A snv 0.58
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 2 2009 2010
dbSNP: rs3095320
rs3095320 		1.000 6 31120157 intron variant G/A;C snv
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs3095320
rs3095320 		1.000 6 31120157 intron variant G/A;C snv
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 2 2009 2010
dbSNP: rs3095320
rs3095320 		1.000 6 31120157 intron variant G/A;C snv
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 2 2009 2010
dbSNP: rs3095320
rs3095320 		1.000 6 31120157 intron variant G/A;C snv
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs3130559
rs3130559 		0.925 0.160 6 31129524 intron variant C/T snv 0.28
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: rs3130981
rs3130981 		0.925 0.080 6 31116036 missense variant T/C;G snv 0.76
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs3130981
rs3130981 		0.925 0.080 6 31116036 missense variant T/C;G snv 0.76
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs3130981
rs3130981 		0.925 0.080 6 31116036 missense variant T/C;G snv 0.76
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 2 2009 2010
dbSNP: rs3130981
rs3130981 		0.925 0.080 6 31116036 missense variant T/C;G snv 0.76
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 2 2009 2010
dbSNP: rs3815087
rs3815087 		0.851 0.200 6 31125810 5 prime UTR variant G/A snv 0.25
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.800 1.000 2 2009 2010
dbSNP: rs3815087
rs3815087 		0.851 0.200 6 31125810 5 prime UTR variant G/A snv 0.25
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.800 1.000 2 2009 2010