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: 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: rs34589476
rs34589476
0.827 0.160 7 116771869 missense variant C/T snv 2.9E-03 3.2E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.730 1.000 4 2003 2014
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.720 1.000 3 2003 2015
dbSNP: rs1057519824
rs1057519824
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.710 1.000 2 2003 2007
dbSNP: rs121913246
rs121913246
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.710 1.000 2 2007 2017
dbSNP: rs121913243
rs121913243
0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
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
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
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
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
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
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
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
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
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
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
Type 1 Papillary Renal Cell Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 1997 1999
dbSNP: rs121913668
rs121913668
0.882 0.120 7 116778827 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 1997 2001
dbSNP: rs121913243
rs121913243
0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2013 2014
dbSNP: rs121913244
rs121913244
0.925 0.120 7 116777409 missense variant C/T snv
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2008 2014
dbSNP: rs121913245
rs121913245
0.925 0.120 7 116783420 missense variant T/C snv
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2013 2014
dbSNP: rs121913246
rs121913246
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2002 2014
dbSNP: rs1057519824
rs1057519824
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0007097
Disease: Carcinoma
Carcinoma
Neoplasms 0.700 1.000 1 2002 2002