Source: CLINVAR

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: rs200407856
rs200407856
CC2D2A
0.882 0.320 4 15516005 splice donor variant G/A snv 4.7E-05 7.7E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2009 2009
dbSNP: rs200407856
rs200407856
CC2D2A
0.882 0.320 4 15516005 splice donor variant G/A snv 4.7E-05 7.7E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs200904521
rs200904521
CC2D2A
1.000 0.320 4 15555209 stop gained C/A;T snv 8.1E-05
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs267606709
rs267606709
CC2D2A
0.925 0.360 4 15567735 missense variant C/T snv 3.8E-05 5.6E-05
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs370880399
rs370880399
CC2D2A
0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs386833751
rs386833751
CC2D2A
0.851 0.320 4 15567676 splice acceptor variant G/- delins
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs386833757
rs386833757
CC2D2A
0.925 0.320 4 15579967 frameshift variant -/T delins
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs386833759
rs386833759
CC2D2A
0.851 0.320 4 15580171 splice region variant AGTA/- delins 7.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs576298659
rs576298659
CC2D2A
1.000 0.320 4 15586154 splice region variant C/A;T snv 8.1E-06; 2.8E-05
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs760918829
rs760918829
CC2D2A
1.000 0.320 4 15574151 missense variant T/C snv 4.8E-05 2.1E-05
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs762998472
rs762998472
CC2D2A
1.000 0.320 4 15527560 frameshift variant -/GGCATGTTTTGGC;GGCATGTTTTGGCAGCGA ins 4.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs763735590
rs763735590
CC2D2A
1.000 0.320 4 15580087 frameshift variant GT/- delins
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs773881370
rs773881370
CC2D2A
1.000 0.320 4 15560607 missense variant A/T snv 2.4E-05 7.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs778858648
rs778858648
CC2D2A
1.000 0.320 4 15599632 missense variant T/G snv 8.0E-06 7.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs781252161
rs781252161
CC2D2A
0.827 0.360 4 15533284 stop gained C/T snv 1.8E-05 7.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs797045437
rs797045437
CC2D2A
0.882 0.320 4 15597432 frameshift variant GACA/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2016 2016
dbSNP: rs797045437
rs797045437
CC2D2A
0.882 0.320 4 15597432 frameshift variant GACA/- delins
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs863225168
rs863225168
CC2D2A
1.000 0.320 4 15589654 missense variant T/C snv
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs863225169
rs863225169
CC2D2A
1.000 0.320 4 15567482 missense variant G/C snv
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs863225170
rs863225170
CC2D2A
1.000 0.320 4 15569346 missense variant T/C snv 9.8E-06 7.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs863225171
rs863225171
CC2D2A
1.000 0.320 4 15574297 frameshift variant -/GGTT delins
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs863225172
rs863225172
CC2D2A
1.000 0.320 4 15579967 splice acceptor variant G/T snv 5.2E-05
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs863225173
rs863225173
CC2D2A
1.000 0.320 4 15563474 missense variant T/C snv 1.4E-05
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs863225174
rs863225174
CC2D2A
1.000 0.320 4 15601303 missense variant A/G snv 7.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015