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: rs201893408
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 7 2009 2015
dbSNP: rs201108965
rs201108965
TMEM216
0.851 0.320 11 61393965 missense variant G/A;T snv 8.0E-06; 1.7E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 5 2010 2016
dbSNP: rs965522059
rs965522059
CEP290
0.776 0.280 12 88125370 splice acceptor variant C/T snv 1.5E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 5 2006 2011
dbSNP: rs11230683
rs11230683
TMEM216
0.882 0.320 11 61397797 stop gained C/A;G;T snv 2.8E-03; 4.0E-06; 8.0E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 4 2010 2017
dbSNP: rs747835249
rs747835249
CEP290
0.882 0.200 12 88114418 splice donor variant CA/- delins 2.0E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 4 2006 2013
dbSNP: rs756302731
rs756302731
CEP290
0.851 0.240 12 88083076 frameshift variant CT/- delins 7.1E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 4 2007 2016
dbSNP: rs1060499781
rs1060499781
CEP290
0.851 0.240 12 88058846 splice region variant -/CC delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 3 2006 2010
dbSNP: rs1192112844
rs1192112844
CEP290
0.882 0.200 12 88118744 splice acceptor variant C/A;T snv 4.2E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 3 2006 2010
dbSNP: rs1569102786
rs1569102786
OFD1
1.000 0.160 X 13736679 splice donor variant G/T snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 3 2006 2016
dbSNP: rs777668842
rs777668842
AHI1
0.925 0.240 6 135455811 stop gained G/A;C snv 6.5E-05; 4.3E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 3 2006 2015
dbSNP: rs312262818
rs312262818
TRAPPC2 ; OFD1
0.925 0.200 X 13736626 missense variant A/G;T snv 1.1E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2008 2017
dbSNP: rs376493409
rs376493409
CEP290
0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2007 2017
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: rs797044945
rs797044945
OFD1
1.000 0.160 X 13768080 frameshift variant TAAAA/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2013 2015
dbSNP: rs1114167302
rs1114167302
MKS1
0.925 0.320 17 58216687 missense variant C/A snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2016 2016
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2009 2009
dbSNP: rs1431917892
rs1431917892
INPP5E
1.000 0.160 9 136429688 frameshift variant C/- del 4.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2013 2013
dbSNP: rs1554972547
rs1554972547
TMEM216
0.882 0.320 11 61393883 splice acceptor variant G/A snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2010 2010
dbSNP: rs1555225566
rs1555225566
CEP290
0.882 0.200 12 88129718 frameshift variant T/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2013 2013
dbSNP: rs1555531363
rs1555531363
KIAA0753
0.925 0.240 17 6620832 frameshift variant G/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2017 2017
dbSNP: rs1555600644
rs1555600644
MKS1
1.000 0.160 17 58216280 intron variant ATTATAATACATCAAACTTTTGCTTCTGTAACTGTTTAATCAAATCAGTTCTACAGAACTGATGCTATCTGACATGTTTTCATAACCAACACTAAACTAATGAATGGCAGGGGAACCAAGAACATTAGAGCTAAAAGGAACCA/- del
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs1564430716
rs1564430716
INPP5E
1.000 0.160 9 136429766 stop gained A/C snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2009 2009
dbSNP: rs1569128307
rs1569128307
OFD1
1.000 0.160 X 13749512 frameshift variant AA/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2014 2014
dbSNP: rs187433682
rs187433682
TCTN2
1.000 0.160 12 123694859 missense variant G/A snv 8.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015