CEP83, centrosomal protein 83, 51134

N. diseases: 3; N. variants: 5
Source: GWASCAT ×
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: C0337434
Disease: Estradiol measurement
Estradiol measurement
0.800 1.000 1 2013 2013
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: rs10859698
rs10859698
12 94458852 intron variant G/A snv 0.12
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2018 2018
dbSNP: rs113918189
rs113918189
12 94325241 intron variant C/T snv 6.9E-02
CUI: C0337443
Disease: Sodium measurement
Sodium measurement
0.700 1.000 1 2018 2018
dbSNP: rs113918189
rs113918189
12 94325241 intron variant C/T snv 6.9E-02
CUI: C0201952
Disease: Chloride measurement
Chloride 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: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3803070
rs3803070
0.925 0.040 12 94294912 intron variant A/C snv 0.21
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018