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: rs118204051
rs118204051
CC2D2A
1.000 0.320 4 15567752 missense variant C/T snv 4.3E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.800 1.000 1 2008 2015
dbSNP: rs118204052
rs118204052
CC2D2A
0.925 0.360 4 15599614 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.800 1.000 1 2008 2015
dbSNP: rs201502401
rs201502401
CC2D2A
0.882 0.320 4 15599699 missense variant A/T snv 2.0E-04 2.0E-04
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.800 1.000 1 2008 2015
dbSNP: rs386833752
rs386833752
CC2D2A
0.925 0.320 4 15567729 missense variant C/T snv 3.8E-05 2.8E-05
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.800 1.000 1 2008 2015
dbSNP: rs754221308
rs754221308
CC2D2A
1.000 0.320 4 15536988 missense variant T/C snv 4.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.800 1.000 1 2008 2015
dbSNP: rs763486732
rs763486732
CC2D2A
1.000 0.320 4 15586170 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.800 1.000 1 2008 2015
dbSNP: rs779823379
rs779823379
CC2D2A
1.000 0.320 4 15580046 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.800 1.000 1 2008 2015
dbSNP: rs267606709
rs267606709
CC2D2A
0.925 0.360 4 15567735 missense variant C/T snv 3.8E-05 5.6E-05
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.800 1.000 0 2011 2011
dbSNP: rs386833752
rs386833752
CC2D2A
0.925 0.320 4 15567729 missense variant C/T snv 3.8E-05 2.8E-05
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.800 1.000 0 2008 2014
dbSNP: rs201502401
rs201502401
CC2D2A
0.882 0.320 4 15599699 missense variant A/T snv 2.0E-04 2.0E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 7 2009 2015
dbSNP: rs1553845569
rs1553845569
CC2D2A
4 15599527 splice acceptor variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 6 2009 2017
dbSNP: rs201502401
rs201502401
CC2D2A
0.882 0.320 4 15599699 missense variant A/T snv 2.0E-04 2.0E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 6 2009 2015
dbSNP: rs794729225
rs794729225
CC2D2A
1.000 0.160 4 15587843 inframe deletion GAA/- delins 4.0E-06 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 6 2009 2017
dbSNP: rs370880399
rs370880399
CC2D2A
0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 4 2008 2015
dbSNP: rs370880399
rs370880399
CC2D2A
0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 4 2008 2015
dbSNP: rs386833750
rs386833750
CC2D2A
0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2009 2010
dbSNP: rs386833750
rs386833750
CC2D2A
0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 2 2009 2010
dbSNP: rs386833751
rs386833751
CC2D2A
0.851 0.320 4 15567676 splice acceptor variant G/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2008 2012
dbSNP: rs386833751
rs386833751
CC2D2A
0.851 0.320 4 15567676 splice acceptor variant G/- delins
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 2 2008 2012
dbSNP: rs386833759
rs386833759
CC2D2A
0.851 0.320 4 15580171 splice region variant AGTA/- delins 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2009 2015
dbSNP: rs386833759
rs386833759
CC2D2A
0.851 0.320 4 15580171 splice region variant AGTA/- delins 7.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 2 2009 2015
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2009 2015
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 2 2009 2015
dbSNP: rs118204053
rs118204053
CC2D2A
1.000 0.320 4 15559183 stop gained C/G;T snv 6.2E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs200407856
rs200407856
CC2D2A
0.882 0.320 4 15516005 splice donor variant G/A snv 4.7E-05 7.7E-05
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015