RFLNA, refilin A, 144347

N. diseases: 19; N. variants: 16
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: rs4765127
rs4765127 		12 123975620 intron variant G/T snv 0.33
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2010 2019
dbSNP: rs4765127
rs4765127 		12 123975620 intron variant G/T snv 0.33
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 3 2010 2018
dbSNP: rs1187415
rs1187415 		12 124006982 intron variant G/C snv 0.60
CUI: C2700366
Disease: Adiponectin Measurement
Adiponectin Measurement 		0.800 1.000 1 2014 2014
dbSNP: rs7969148
rs7969148 		1.000 0.080 12 124129992 intron variant T/C snv 0.23
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2014 2014
dbSNP: rs34102591
rs34102591 		1.000 0.040 12 123996254 intron variant A/G snv 0.17
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 3 2015 2019
dbSNP: rs4765127
rs4765127 		12 123975620 intron variant G/T snv 0.33
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs863750
rs863750 		12 124020897 intron variant C/T snv 0.53
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2018 2019
dbSNP: rs863750
rs863750 		12 124020897 intron variant C/T snv 0.53
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 2 2015 2019
dbSNP: rs11057408
rs11057408 		12 123980289 intron variant G/T snv 0.33
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2017 2017
dbSNP: rs11057413
rs11057413 		12 124004615 intron variant A/C;G snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs11057450
rs11057450 		12 124100790 intron variant G/A snv 0.28
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs11057553
rs11057553 		12 124267534 intron variant C/T snv 3.9E-02
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs11615503
rs11615503 		12 124293085 intron variant G/A snv 0.61
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs12310367
rs12310367 		12 124002131 intron variant A/G snv 0.33
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2019 2019
dbSNP: rs34248373
rs34248373 		12 124019257 intron variant AA/-;A;AAA delins 0.49
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs427244
rs427244 		1.000 0.040 12 124120741 intron variant A/G snv 0.71
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs4765540
rs4765540 		1.000 0.040 12 124315096 3 prime UTR variant C/A;G;T snv
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7307277
rs7307277 		12 123990609 intron variant A/G snv 0.32
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7307277
rs7307277 		12 123990609 intron variant A/G snv 0.32
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs825476
rs825476 		0.925 0.120 12 124083909 intron variant C/T snv 0.51
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs863750
rs863750 		12 124020897 intron variant C/T snv 0.53
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs863750
rs863750 		12 124020897 intron variant C/T snv 0.53
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs863750
rs863750 		12 124020897 intron variant C/T snv 0.53
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs863750
rs863750 		12 124020897 intron variant C/T snv 0.53
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs863750
rs863750 		12 124020897 intron variant C/T snv 0.53
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018