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: 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: rs1392635342
rs1392635342
CC2D2A
1.000 0.320 4 15511290 frameshift variant -/TA delins 4.3E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		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: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		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: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.700 0
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: 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: rs1560184664
rs1560184664
CC2D2A
0.882 0.360 4 15563461 frameshift variant TA/- delins
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		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: rs1560184664
rs1560184664
CC2D2A
0.882 0.360 4 15563461 frameshift variant TA/- delins
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 0
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
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: 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: 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: 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: 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: 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