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: rs1057520030
rs1057520030
7 116777427 missense variant A/G;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma
Neoplasms 0.700 1.000 1 2002 2002
dbSNP: rs121913245
rs121913245
0.925 0.120 7 116783420 missense variant T/C snv
CUI: C0007097
Disease: Carcinoma
Carcinoma
Neoplasms 0.700 1.000 1 1998 1998
dbSNP: rs121913246
rs121913246
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C0007097
Disease: Carcinoma
Carcinoma
Neoplasms 0.700 1.000 1 1998 1998
dbSNP: rs121913668
rs121913668
0.882 0.120 7 116778827 missense variant T/C snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 1997 1997
dbSNP: rs121913671
rs121913671
0.882 0.160 7 116783353 missense variant G/A;C snv
CUI: C0007097
Disease: Carcinoma
Carcinoma
Neoplasms 0.700 1.000 1 1998 1998
dbSNP: rs121913675
rs121913675
0.925 0.080 7 116778953 missense variant C/T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 1999 1999
dbSNP: rs121913676
rs121913676
0.925 0.080 7 116783421 missense variant G/A;C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.700 1.000 1 2007 2007
dbSNP: rs121913676
rs121913676
0.925 0.080 7 116783421 missense variant G/A;C;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 1999 1999
dbSNP: rs121913677
rs121913677
0.925 0.080 7 116783402 missense variant A/G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 1999 1999
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: rs1858830
rs1858830
0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs41741
rs41741
7 116798457 downstream gene variant G/T snv 0.64
Serum gamma-glutamyl transferase measurement
0.700 1.000 1 2018 2018
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0007097
Disease: Carcinoma
Carcinoma
Neoplasms 0.700 1.000 1 1975 1975
dbSNP: rs786202724
rs786202724
0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma
Neoplasms 0.700 1.000 1 1999 1999
dbSNP: rs786202724
rs786202724
0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.700 1.000 1 2007 2007
dbSNP: rs794728016
rs794728016
1.000 7 116763206 missense variant T/G snv
CUI: C3874334
Disease: Severe hearing loss
Severe hearing loss
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
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