FADS1, fatty acid desaturase 1, 3992

N. diseases: 125; N. variants: 32
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: rs35473591
rs35473591 		1.000 0.080 11 61818856 intron variant -/T delins 0.28
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs35473591
rs35473591 		1.000 0.080 11 61818856 intron variant -/T delins 0.28
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs5792235
rs5792235 		1.000 0.080 11 61828851 intron variant A/- delins 0.30
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs5792235
rs5792235 		1.000 0.080 11 61828851 intron variant A/- delins 0.30
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs28456
rs28456 		0.925 0.120 11 61822009 intron variant A/C;G snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs28456
rs28456 		0.925 0.120 11 61822009 intron variant A/C;G snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.710 1.000 1 2018 2018
dbSNP: rs28456
rs28456 		0.925 0.120 11 61822009 intron variant A/C;G snv
CUI: C0523829
Disease: Phosphatidylcholine measurement
Phosphatidylcholine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs28456
rs28456 		0.925 0.120 11 61822009 intron variant A/C;G snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs28456
rs28456 		0.925 0.120 11 61822009 intron variant A/C;G snv
CUI: C0202171
Disease: Phosphatidylinositol measurement
Phosphatidylinositol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs174557
rs174557 		1.000 0.080 11 61813896 intron variant A/C;G;T snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs174557
rs174557 		1.000 0.080 11 61813896 intron variant A/C;G;T snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs174554
rs174554 		1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 3 2015 2019
dbSNP: rs174554
rs174554 		1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2018 2019
dbSNP: rs174554
rs174554 		1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs174554
rs174554 		1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 2 2018 2019
dbSNP: rs174554
rs174554 		1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs174554
rs174554 		1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs174554
rs174554 		1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs174562
rs174562 		1.000 0.080 11 61817672 intron variant A/G snv 0.28
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs174562
rs174562 		1.000 0.080 11 61817672 intron variant A/G snv 0.28
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs174562
rs174562 		1.000 0.080 11 61817672 intron variant A/G snv 0.28
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs174564
rs174564 		1.000 0.080 11 61820833 intron variant A/G snv 0.30
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs174564
rs174564 		1.000 0.080 11 61820833 intron variant A/G snv 0.30
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2019 2019
dbSNP: rs174564
rs174564 		1.000 0.080 11 61820833 intron variant A/G snv 0.30
CUI: C0523829
Disease: Phosphatidylcholine measurement
Phosphatidylcholine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs174564
rs174564 		1.000 0.080 11 61820833 intron variant A/G snv 0.30
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018