CEP83, centrosomal protein 83, 51134

N. diseases: 15; N. variants: 15
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: rs587777487
rs587777487 		1.000 12 94333527 missense variant C/G;T snv 4.0E-06; 1.6E-05
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.800 1.000 1 2014 2014
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: rs11107531
rs11107531 		12 94407545 intron variant C/T snv 0.26
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.700 1.000 1 2013 2013
dbSNP: rs11107531
rs11107531 		12 94407545 intron variant C/T snv 0.26
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.700 1.000 1 2013 2013
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: 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: 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: rs1207804224
rs1207804224 		1.000 12 94310031 stop gained G/A snv 7.0E-06
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 0
dbSNP: rs368619022
rs368619022 		1.000 12 94411780 stop gained G/A;T snv 1.2E-05
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 0
dbSNP: rs369483167
rs369483167 		1.000 12 94378967 stop gained G/A snv 1.1E-04 9.1E-05
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 0
dbSNP: rs587777486
rs587777486 		1.000 12 94412370 stop gained G/A snv 8.1E-06 7.0E-06
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 0
dbSNP: rs587777488
rs587777488 		1.000 12 94333529 stop gained G/T snv
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 0
dbSNP: rs879255575
rs879255575 		1.000 12 94403235 inframe deletion CAATTCCAATTTTTGTGG/- delins
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 0
dbSNP: rs879255576
rs879255576 		1.000 12 94308842 inframe deletion GTT/- delins
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 0