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: 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: 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: 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: 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: 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: rs1553845300
rs1553845300
CC2D2A
1.000 0.200 4 15597452 stop gained G/T snv
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.700 0
dbSNP: rs370880399
rs370880399
CC2D2A
0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs370880399
rs370880399
CC2D2A
0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.700 0
dbSNP: rs375278294
rs375278294
CC2D2A
1.000 0.160 4 15574207 stop gained C/A;T snv 2.0E-05; 1.3E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs377177061
rs377177061
CC2D2A
1.000 0.040 4 15502879 stop gained C/G;T snv 4.1E-06; 2.9E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 0
dbSNP: rs386833748
rs386833748
CC2D2A
1.000 0.200 4 15557451 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs386833750
rs386833750
CC2D2A
0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05
CUI: C3280898
Disease: JOUBERT SYNDROME 9/15, DIGENIC
JOUBERT SYNDROME 9/15, DIGENIC 		0.700 0
dbSNP: rs386833750
rs386833750
CC2D2A
0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 0
dbSNP: rs386833750
rs386833750
CC2D2A
0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.700 0
dbSNP: rs386833750
rs386833750
CC2D2A
0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs386833763
rs386833763
CC2D2A
1.000 0.200 4 15510217 stop gained C/T snv 8.2E-06
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs757208121
rs757208121
CC2D2A
0.882 0.200 4 15527564 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 0
dbSNP: rs757208121
rs757208121
CC2D2A
0.882 0.200 4 15527564 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs757208121
rs757208121
CC2D2A
0.882 0.200 4 15527564 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 0
dbSNP: rs758036385
rs758036385
CC2D2A
0.925 0.200 4 15586169 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs758036385
rs758036385
CC2D2A
0.925 0.200 4 15586169 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 0
dbSNP: rs764719093
rs764719093
CC2D2A
0.882 0.360 4 15557361 stop gained C/A;T snv 4.0E-06; 4.0E-06; 4.0E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.700 0