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: 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: 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