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: rs38855
rs38855 		7 116717990 intron variant A/G;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 2 2013 2017
dbSNP: rs10215153
rs10215153 		1.000 0.040 7 116759077 intron variant G/A snv 0.32
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1476454
rs1476454 		7 116717314 intron variant A/G snv 0.26
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs17138945
rs17138945 		1.000 0.040 7 116703812 intron variant T/G snv 7.3E-02
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs38841
rs38841 		1.000 0.040 7 116679872 intron variant A/G snv 0.28
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs38845
rs38845 		1.000 0.040 7 116681748 intron variant A/G;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs38850
rs38850 		1.000 0.080 7 116697595 intron variant G/A snv 0.20
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs38857
rs38857 		1.000 0.040 7 116725359 intron variant T/C snv 0.72
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs40239
rs40239 		0.851 0.120 7 116677823 intron variant G/A snv 0.87
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs40239
rs40239 		0.851 0.120 7 116677823 intron variant G/A snv 0.87
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs40239
rs40239 		0.851 0.120 7 116677823 intron variant G/A snv 0.87
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs40239
rs40239 		0.851 0.120 7 116677823 intron variant G/A snv 0.87
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs121913243
rs121913243 		0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 7 1997 2015
dbSNP: rs121913246
rs121913246 		0.827 0.200 7 116783360 missense variant A/G snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 7 1997 2015
dbSNP: rs121913668
rs121913668 		0.882 0.120 7 116778827 missense variant T/C snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 7 1997 2015
dbSNP: rs121913669
rs121913669 		0.925 0.120 7 116782027 missense variant G/A;T snv 4.0E-06
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 7 1997 2015
dbSNP: rs121913670
rs121913670 		0.925 0.120 7 116783329 missense variant G/A snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 7 1997 2015
dbSNP: rs121913673
rs121913673 		0.925 0.120 7 116782048 missense variant C/G;T snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 7 1997 2015
dbSNP: rs786202724
rs786202724 		0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 1999 2013
dbSNP: rs121913244
rs121913244 		0.925 0.120 7 116777409 missense variant C/T snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 1997 1999
dbSNP: rs121913245
rs121913245 		0.925 0.120 7 116783420 missense variant T/C snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 1997 1999
dbSNP: rs121913247
rs121913247 		0.882 0.200 7 116783359 missense variant T/C snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 1997 1999
dbSNP: rs121913670
rs121913670 		0.925 0.120 7 116783329 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 1997 2013
dbSNP: rs121913671
rs121913671 		0.882 0.160 7 116783353 missense variant G/A;C snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 1997 1999
dbSNP: rs786202724
rs786202724 		0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 1997 1999