RDX, radixin, 5962

N. diseases: 80; N. variants: 9
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: rs4561177
rs4561177 		0.807 0.120 11 110091706 intron variant A/G snv 0.36
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.800 1.000 2 2012 2016
dbSNP: rs121918379
rs121918379 		1.000 0.120 11 110231889 missense variant C/T snv 4.0E-06
CUI: C1970239
Disease: DEAFNESS, AUTOSOMAL RECESSIVE, 24
DEAFNESS, AUTOSOMAL RECESSIVE, 24 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2007 2007
dbSNP: rs10789752
rs10789752 		11 110109220 intron variant T/A;C snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs141001422
rs141001422 		11 109985155 intron variant T/C snv 1.1E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs4561177
rs4561177 		0.807 0.120 11 110091706 intron variant A/G snv 0.36
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4561177
rs4561177 		0.807 0.120 11 110091706 intron variant A/G snv 0.36
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4561177
rs4561177 		0.807 0.120 11 110091706 intron variant A/G snv 0.36
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4561177
rs4561177 		0.807 0.120 11 110091706 intron variant A/G snv 0.36
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4561177
rs4561177 		0.807 0.120 11 110091706 intron variant A/G snv 0.36
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs661171
rs661171 		11 110145794 intron variant T/G snv 0.69
CUI: C0202159
Disease: Parathyroid hormone measurement
Parathyroid hormone measurement 		0.700 1.000 1 2018 2018
dbSNP: rs661171
rs661171 		11 110145794 intron variant T/G snv 0.69
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs661171
rs661171 		11 110145794 intron variant T/G snv 0.69
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs661171
rs661171 		11 110145794 intron variant T/G snv 0.69
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs661171
rs661171 		11 110145794 intron variant T/G snv 0.69
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs689183
rs689183 		11 110141418 intron variant G/T snv 0.74
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7115956
rs7115956 		0.827 0.120 11 110085620 intron variant C/T snv 0.38
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs7115956
rs7115956 		0.827 0.120 11 110085620 intron variant C/T snv 0.38
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs7115956
rs7115956 		0.827 0.120 11 110085620 intron variant C/T snv 0.38
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs7115956
rs7115956 		0.827 0.120 11 110085620 intron variant C/T snv 0.38
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs7115956
rs7115956 		0.827 0.120 11 110085620 intron variant C/T snv 0.38
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs746463
rs746463 		11 110125219 intron variant C/T snv 0.71
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs121918380
rs121918380 		1.000 0.120 11 110263964 stop gained G/A snv
CUI: C1970239
Disease: DEAFNESS, AUTOSOMAL RECESSIVE, 24
DEAFNESS, AUTOSOMAL RECESSIVE, 24 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0