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: rs1357409506
rs1357409506 		1.000 0.040 2 203870896 stop gained C/A;T snv 7.0E-06
CUI: C4015214
Disease: CTLA4 Haploinsufficiency
CTLA4 Haploinsufficiency 		Immune System Diseases 0.700 0
dbSNP: rs1553657430
rs1553657430 		1.000 0.040 2 203870888 missense variant C/A snv
CUI: C4015214
Disease: CTLA4 Haploinsufficiency
CTLA4 Haploinsufficiency 		Immune System Diseases 0.700 0
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C1833450
Disease: HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO
HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C1857845
Disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (finding)
CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (finding) 		0.700 0
dbSNP: rs606231422
rs606231422 		1.000 0.040 2 203870684 missense variant C/T snv
CUI: C4015214
Disease: CTLA4 Haploinsufficiency
CTLA4 Haploinsufficiency 		Immune System Diseases 0.700 0
dbSNP: rs1207011218
rs1207011218 		0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0019100
Disease: Severe Dengue
Severe Dengue 		Infections 0.010 < 0.001 1 2018 2018
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		Eye Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0040021
Disease: Thromboangiitis Obliterans
Thromboangiitis Obliterans 		Cardiovascular Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs5742909
rs5742909 		0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		Eye Diseases; Nervous System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs733618
rs733618 		0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs733618
rs733618 		0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs886041906
rs886041906 		0.882 0.200 2 203868002 stop gained G/A snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs886041906
rs886041906 		0.882 0.200 2 203868002 stop gained G/A snv
CUI: C1704327
Disease: Bone Sarcoma
Bone Sarcoma 		Neoplasms; Musculoskeletal Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs886041906
rs886041906 		0.882 0.200 2 203868002 stop gained G/A snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2020 2020
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.030 0.333 3 2003 2008
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.020 0.500 2 2018 2019
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.020 0.500 2 2018 2019
dbSNP: rs4553808
rs4553808 		0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2017 2018
dbSNP: rs4553808
rs4553808 		0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2017 2018
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.050 0.600 5 2004 2015