Source: CURATED ×
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: 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