TFCP2L1, transcription factor CP2 like 1, 29842

N. diseases: 26; 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: rs17006292
rs17006292 		1.000 0.200 2 121261187 intron variant C/A snv 2.8E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.800 1.000 1 2012 2012
dbSNP: rs1078442
rs1078442 		2 121231348 intron variant C/A snv 0.39
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 2019
dbSNP: rs11689538
rs11689538 		2 121238062 intron variant G/C snv 0.11
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs11689538
rs11689538 		2 121238062 intron variant G/C snv 0.11
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs11689538
rs11689538 		2 121238062 intron variant G/C snv 0.11
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs11694902
rs11694902 		2 121231308 intron variant G/A snv 0.12
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs2304667
rs2304667 		2 121231913 synonymous variant G/A;T snv 0.45; 1.4E-03
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs2713206
rs2713206 		1.000 0.120 2 121250365 intron variant C/T snv 0.21
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs36096257
rs36096257 		2 121281207 missense variant G/A snv 6.8E-03 2.9E-03
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs36096257
rs36096257 		2 121281207 missense variant G/A snv 6.8E-03 2.9E-03
CUI: C0202194
Disease: Potassium measurement
Potassium measurement 		0.700 1.000 1 2018 2018
dbSNP: rs36096257
rs36096257 		2 121281207 missense variant G/A snv 6.8E-03 2.9E-03
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs6723509
rs6723509 		2 121243169 intron variant T/C snv 0.12
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs74902775
rs74902775 		2 121230815 intron variant C/T snv 0.12
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs750416
rs750416 		2 121240122 intron variant T/C snv 0.48
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs7596689
rs7596689 		2 121281519 intron variant A/C snv 0.11
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2018 2018