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: rs200913791
rs200913791 		0.925 0.160 3 50342473 missense variant A/G snv 2.0E-04 3.5E-05
CUI: C3809543
Disease: CILIARY DYSKINESIA, PRIMARY, 22
CILIARY DYSKINESIA, PRIMARY, 22 		0.800 1.000 4 2013 2018
dbSNP: rs1297857806
rs1297857806 		3 50342917 splice donor variant C/T snv 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2013 2013
dbSNP: rs2073499
rs2073499 		1.000 0.040 3 50336862 non coding transcript exon variant A/G snv 0.32
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 2 2017 2019
dbSNP: rs200913791
rs200913791 		0.925 0.160 3 50342473 missense variant A/G snv 2.0E-04 3.5E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs78166579
rs78166579 		3 50341371 3 prime UTR variant C/T snv 2.3E-02 2.4E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs200913791
rs200913791 		0.925 0.160 3 50342473 missense variant A/G snv 2.0E-04 3.5E-05
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397515460
rs397515460 		1.000 3 50342047 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C3809543
Disease: CILIARY DYSKINESIA, PRIMARY, 22
CILIARY DYSKINESIA, PRIMARY, 22 		0.700 0
dbSNP: rs753061612
rs753061612 		1.000 3 50341685 missense variant T/C snv 1.2E-05
CUI: C3809543
Disease: CILIARY DYSKINESIA, PRIMARY, 22
CILIARY DYSKINESIA, PRIMARY, 22 		0.700 0
dbSNP: rs2073498
rs2073498 		0.763 0.280 3 50332115 missense variant C/A snv 9.6E-02 8.0E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2012 2014
dbSNP: rs2073498
rs2073498 		0.763 0.280 3 50332115 missense variant C/A snv 9.6E-02 8.0E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2006 2014
dbSNP: rs2073498
rs2073498 		0.763 0.280 3 50332115 missense variant C/A snv 9.6E-02 8.0E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2006 2014
dbSNP: rs2073498
rs2073498 		0.763 0.280 3 50332115 missense variant C/A snv 9.6E-02 8.0E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2012 2014
dbSNP: rs2073498
rs2073498 		0.763 0.280 3 50332115 missense variant C/A snv 9.6E-02 8.0E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2006 2014
dbSNP: rs1184094026
rs1184094026 		0.925 0.080 3 50331675 missense variant T/G snv 8.0E-06 1.4E-05
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1184094026
rs1184094026 		0.925 0.080 3 50331675 missense variant T/G snv 8.0E-06 1.4E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1208415127
rs1208415127 		0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1208415127
rs1208415127 		0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1208415127
rs1208415127 		0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1208415127
rs1208415127 		0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1208415127
rs1208415127 		0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1208415127
rs1208415127 		0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2005 2005
dbSNP: rs1384988139
rs1384988139 		1.000 0.120 3 50330655 missense variant G/A;C snv
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs1389001294
rs1389001294 		1.000 0.040 3 50331640 missense variant C/T snv 1.4E-05
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1989839
rs1989839 		0.790 0.160 3 50341515 intron variant A/G snv 0.22 0.20
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1989839
rs1989839 		0.790 0.160 3 50341515 intron variant A/G snv 0.22 0.20
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018