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: 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: rs1560184664
rs1560184664
CC2D2A
0.882 0.360 4 15563461 frameshift variant TA/- delins
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.700 0
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: 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: 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: 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
dbSNP: rs781252161
rs781252161
CC2D2A
0.827 0.360 4 15533284 stop gained C/T snv 1.8E-05 7.0E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C4551722
Disease: Encephalocele
Encephalocele 		0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C4551722
Disease: Encephalocele
Encephalocele 		0.700 0
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs781252161
rs781252161
CC2D2A
0.827 0.360 4 15533284 stop gained C/T snv 1.8E-05 7.0E-06
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: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 0
dbSNP: rs794729225
rs794729225
CC2D2A
1.000 0.160 4 15587843 inframe deletion GAA/- delins 4.0E-06 7.0E-06
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 0