PLXNC1, plexin C1, 10154

N. diseases: 29; N. variants: 12
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: rs4761470
rs4761470 		12 94289428 intron variant G/A snv 0.16
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.800 1.000 1 2013 2013
dbSNP: rs4761470
rs4761470 		12 94289428 intron variant G/A snv 0.16
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.800 1.000 1 2013 2013
dbSNP: rs115651556
rs115651556 		12 94220122 missense variant G/A snv 1.1E-02 1.1E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12303699
rs12303699 		1.000 0.040 12 94188560 intron variant G/A snv 0.30
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12313790
rs12313790 		12 94239157 intron variant C/A;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs144449115
rs144449115 		12 94298853 intron variant AAGA/- delins 4.6E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2019 2019
dbSNP: rs3803070
rs3803070 		0.925 0.040 12 94294912 intron variant A/C snv 0.21
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs3803070
rs3803070 		0.925 0.040 12 94294912 intron variant A/C snv 0.21
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3847803
rs3847803 		1.000 0.040 12 94164800 intron variant C/T snv 0.88
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4761587
rs4761587 		0.882 12 94158023 intron variant A/G snv 0.78
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs4761587
rs4761587 		0.882 12 94158023 intron variant A/G snv 0.78
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs4761587
rs4761587 		0.882 12 94158023 intron variant A/G snv 0.78
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
dbSNP: rs4761587
rs4761587 		0.882 12 94158023 intron variant A/G snv 0.78
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs575315089
rs575315089 		12 94289428 intron variant -/T delins 2.2E-03
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.700 1.000 1 2013 2013
dbSNP: rs575315089
rs575315089 		12 94289428 intron variant -/T delins 2.2E-03
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs59129883
rs59129883 		12 94227839 intron variant T/A snv 0.52
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6538487
rs6538487 		12 94230048 intron variant A/G snv 0.52
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7134784
rs7134784 		12 94188701 intron variant T/C snv 0.83
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019