Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199473678
rs199473678
CTC1
1.000 0.280 17 8230304 missense variant T/C snv 6.9E-05 7.0E-05
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.800 1.000 4 2012 2018
dbSNP: rs199473673
rs199473673
CTC1
1.000 0.280 17 8237487 missense variant G/A snv 1.5E-04 1.0E-04
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.800 1.000 2 2012 2012
dbSNP: rs199473676
rs199473676
CTC1
1.000 0.280 17 8232427 missense variant A/C snv 2.0E-04 2.5E-04
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.800 1.000 2 2012 2012
dbSNP: rs369255297
rs369255297
CTC1
1.000 0.280 17 8231334 missense variant C/T snv 2.8E-05 7.0E-05
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.800 1.000 2 2012 2012
dbSNP: rs373905859
rs373905859
CTC1
1.000 0.280 17 8231427 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.800 1.000 2 2012 2012
dbSNP: rs387907080
rs387907080
CTC1
0.925 0.360 17 8237392 missense variant C/T snv 8.0E-06
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.800 1.000 2 2012 2012
dbSNP: rs202138550
rs202138550
CTC1
0.925 0.360 17 8229943 missense variant G/A snv 5.6E-05 4.9E-05
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.800 0
dbSNP: rs199473679
rs199473679
CTC1
0.882 0.360 17 8229946 inframe deletion CAA/- delins 2.0E-05 1.3E-04
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 1.000 6 2012 2013
dbSNP: rs199473674
rs199473674
CTC1
0.925 0.360 17 8237440 frameshift variant TTCT/- delins 2.0E-04 1.7E-04
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.700 1.000 5 2012 2013
dbSNP: rs199473674
rs199473674
CTC1
0.925 0.360 17 8237440 frameshift variant TTCT/- delins 2.0E-04 1.7E-04
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 1.000 5 2012 2013
dbSNP: rs199473677
rs199473677
CTC1
0.882 0.360 17 8230396 frameshift variant G/-;GG delins 3.8E-04
CUI: C2677299
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) 		0.700 1.000 4 2012 2015
dbSNP: rs202138550
rs202138550
CTC1
0.925 0.360 17 8229943 missense variant G/A snv 5.6E-05 4.9E-05
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 1.000 4 2012 2013
dbSNP: rs1320809462
rs1320809462
CTC1
1.000 0.280 17 8234859 missense variant C/G snv 4.0E-06
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.700 1.000 2 2012 2012
dbSNP: rs199473677
rs199473677
CTC1
0.882 0.360 17 8230396 frameshift variant G/-;GG delins 3.8E-04
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 1.000 2 2012 2013
dbSNP: rs199473681
rs199473681
CTC1
1.000 0.280 17 8228591 missense variant GA/AT mnv
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.700 1.000 2 2012 2012
dbSNP: rs200609323
rs200609323
CTC1
0.925 0.360 17 8230562 splice donor variant C/A snv 2.0E-05 2.1E-05
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 1.000 2 2012 2012
dbSNP: rs387907080
rs387907080
CTC1
0.925 0.360 17 8237392 missense variant C/T snv 8.0E-06
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 1.000 2 2013 2018
dbSNP: rs7503199
rs7503199
CTC1
17 8230957 intron variant C/T snv 0.23
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2019 2019
dbSNP: rs1196342305
rs1196342305
CTC1
1.000 0.120 17 8238238 frameshift variant A/- del 7.0E-06
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs1444923772
rs1444923772
CTC1
1.000 0.280 17 8235279 frameshift variant C/- delins 2.1E-05
CUI: C2677299
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) 		0.700 0
dbSNP: rs1567599296
rs1567599296
CTC1
1.000 0.120 17 8229409 stop gained G/A snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs1567599993
rs1567599993
CTC1
1.000 0.280 17 8229905 frameshift variant -/G delins
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.700 0
dbSNP: rs199473675
rs199473675
CTC1
1.000 0.280 17 8236077 frameshift variant G/- del 2.8E-05
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.700 0
dbSNP: rs199473677
rs199473677
CTC1
0.882 0.360 17 8230396 frameshift variant G/-;GG delins 3.8E-04
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.700 0
dbSNP: rs199473679
rs199473679
CTC1
0.882 0.360 17 8229946 inframe deletion CAA/- delins 2.0E-05 1.3E-04
CUI: C4552029
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 		0.700 0