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: rs121913243
rs121913243 		0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121913246
rs121913246 		0.827 0.200 7 116783360 missense variant A/G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121913669
rs121913669 		0.925 0.120 7 116782027 missense variant G/A;T snv 4.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121913670
rs121913670 		0.925 0.120 7 116783329 missense variant G/A snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121913671
rs121913671 		0.882 0.160 7 116783353 missense variant G/A;C snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121913673
rs121913673 		0.925 0.120 7 116782048 missense variant C/G;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121913675
rs121913675 		0.925 0.080 7 116778953 missense variant C/T snv
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
Childhood Hepatocellular Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121913676
rs121913676 		0.925 0.080 7 116783421 missense variant G/A;C;T snv
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
Childhood Hepatocellular Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121913677
rs121913677 		0.925 0.080 7 116783402 missense variant A/G snv
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
Childhood Hepatocellular Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1554400286
rs1554400286 		1.000 0.080 7 116783372 missense variant A/G snv
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs768678989
rs768678989 		1.000 0.080 7 116771932 missense variant C/T snv 2.8E-05
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs771333219
rs771333219 		1.000 0.080 7 116759444 missense variant C/T snv 1.2E-04 8.4E-05
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs786202724
rs786202724 		0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs794728016
rs794728016 		1.000 7 116763206 missense variant T/G snv
CUI: C4084709
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 97
DEAFNESS, AUTOSOMAL RECESSIVE 97 		0.800 0
dbSNP: rs869320706
rs869320706 		7 116771971 splice donor variant GAGCTACTTTTCCAGAAGGTATATTTC/- delins
CUI: C4085248
Disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs869320707
rs869320707 		7 116771990 splice donor variant G/T snv
CUI: C4085248
Disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs33917957
rs33917957 		0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs33917957
rs33917957 		0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs33917957
rs33917957 		0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs33917957
rs33917957 		0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs33917957
rs33917957 		0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2013 2013
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: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs56391007
rs56391007 		0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2005 2005
dbSNP: rs56391007
rs56391007 		0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2019 2019