TBC1D9, TBC1 domain family member 9, 23158

N. diseases: 491; N. variants: 11
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: rs12386422
rs12386422
4 140739173 intron variant T/C snv 0.39
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs12386428
rs12386428
4 140737121 intron variant G/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs12500421
rs12500421
4 140735191 intron variant T/C snv 0.32
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs17006401
rs17006401
4 140731768 intron variant A/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs6835008
rs6835008
4 140729091 intron variant T/C snv 0.39
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs6844563
rs6844563
4 140741009 intron variant T/C snv 0.32
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs6853171
rs6853171
4 140721765 intron variant C/T snv 0.39
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs6853487
rs6853487
4 140729122 intron variant C/T snv 0.39
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs7659321
rs7659321
4 140723375 intron variant G/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs1452199941
rs1452199941
0.827 0.160 4 140670787 missense variant T/C snv 7.0E-06
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1452199941
rs1452199941
0.827 0.160 4 140670787 missense variant T/C snv 7.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1452199941
rs1452199941
0.827 0.160 4 140670787 missense variant T/C snv 7.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1452199941
rs1452199941
0.827 0.160 4 140670787 missense variant T/C snv 7.0E-06
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1452199941
rs1452199941
0.827 0.160 4 140670787 missense variant T/C snv 7.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs965468440
rs965468440
1.000 0.040 4 140679769 synonymous variant A/G snv
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
Nervous System Diseases 0.010 1.000 1 2014 2014