CEP104, centrosomal protein 104, 9731

N. diseases: 51; N. variants: 16
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: rs10492942
rs10492942 		1 3847652 non coding transcript exon variant C/T snv 0.19 0.20
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10909804
rs10909804 		1 3854365 intron variant C/G;T snv 0.21
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs16824230
rs16824230 		1 3849676 intron variant A/G snv 0.24
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs17412654
rs17412654 		1 3841929 intron variant T/C snv 0.20
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2275833
rs2275833 		1 3829157 intron variant C/T snv 0.23
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs6688969
rs6688969 		1 3826827 intron variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7511793
rs7511793 		1 3827685 intron variant A/G snv 0.20
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7538067
rs7538067 		1 3845208 intron variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7545274
rs7545274 		1 3827697 intron variant C/A snv 0.20
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1334483830
rs1334483830 		1.000 1 3852359 frameshift variant C/- del 1.4E-05
CUI: C4084842
Disease: JOUBERT SYNDROME 25
JOUBERT SYNDROME 25 		0.700 0
dbSNP: rs372048855
rs372048855 		1.000 1 3839096 stop gained A/C snv 2.4E-05 7.0E-06
CUI: C4084842
Disease: JOUBERT SYNDROME 25
JOUBERT SYNDROME 25 		0.700 0
dbSNP: rs374574638
rs374574638 		1.000 1 3844977 stop gained G/A snv 1.6E-05 4.2E-05
CUI: C4084842
Disease: JOUBERT SYNDROME 25
JOUBERT SYNDROME 25 		0.700 0
dbSNP: rs776094913
rs776094913 		1.000 1 3837320 frameshift variant GAGTAACGGG/- delins 4.0E-06
CUI: C4084842
Disease: JOUBERT SYNDROME 25
JOUBERT SYNDROME 25 		0.700 0
dbSNP: rs869025276
rs869025276 		1.000 1 3839606 splice donor variant A/G snv
CUI: C4084842
Disease: JOUBERT SYNDROME 25
JOUBERT SYNDROME 25 		0.700 0
dbSNP: rs869025277
rs869025277 		1.000 1 3835081 frameshift variant -/A ins
CUI: C4084842
Disease: JOUBERT SYNDROME 25
JOUBERT SYNDROME 25 		0.700 0
dbSNP: rs869025278
rs869025278 		1.000 1 3816372 splice acceptor variant T/C snv
CUI: C4084842
Disease: JOUBERT SYNDROME 25
JOUBERT SYNDROME 25 		0.700 0