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: rs587783013
rs587783013
AHI1
0.925 0.160 6 135433119 stop gained C/T snv 1.6E-05 7.0E-06
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 4 2015 2017
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: rs368788993
rs368788993
AHI1
1.000 0.120 6 135427226 missense variant A/T snv 4.1E-06 1.4E-05
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs371637724
rs371637724
AHI1
0.925 0.240 6 135448400 stop gained G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs371637724
rs371637724
AHI1
0.925 0.240 6 135448400 stop gained G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs372659908
rs372659908
AHI1
0.925 0.160 6 135433081 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs541041911
rs541041911
AHI1
1.000 0.120 6 135438435 missense variant T/A;C snv
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs753085250
rs753085250
AHI1
1.000 0.120 6 135455928 splice acceptor variant T/C snv 7.0E-06
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs753874898
rs753874898
AHI1
1.000 0.120 6 135463146 frameshift variant TTT/-;TT;TTTT;TTTTT delins
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs755407014
rs755407014
AHI1
1.000 0.120 6 135433121 frameshift variant T/- del 7.0E-06
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs764412921
rs764412921
AHI1
1.000 0.120 6 135438494 stop gained A/G;T snv 4.4E-05
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs776093293
rs776093293
AHI1
1.000 0.120 6 135438374 splice donor variant C/A snv
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs777668842
rs777668842
AHI1
0.925 0.240 6 135455811 stop gained G/A;C snv 6.5E-05; 4.3E-06
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs794729195
rs794729195
AHI1
0.925 0.240 6 135455873 frameshift variant G/- delins
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2004 2004
dbSNP: rs863225131
rs863225131
AHI1
1.000 0.120 6 135428757 stop gained A/C snv
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs863225132
rs863225132
AHI1
1.000 0.120 6 135442595 frameshift variant -/CC delins
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs863225133
rs863225133
AHI1
1.000 0.120 6 135457530 missense variant T/C snv
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs863225136
rs863225136
AHI1
1.000 0.120 6 135433193 frameshift variant -/CA delins 4.0E-06 2.1E-05
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs863225137
rs863225137
AHI1
1.000 0.120 6 135448289 splice donor variant C/T snv 1.2E-05
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs863225138
rs863225138
AHI1
1.000 0.120 6 135465901 stop gained G/A;C snv 4.3E-06; 4.3E-06
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs863225139
rs863225139
AHI1
1.000 0.120 6 135431284 missense variant C/A;T snv
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs863225140
rs863225140
AHI1
1.000 0.120 6 135433097 frameshift variant TCTCTCATCT/- delins
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs863225141
rs863225141
AHI1
1.000 0.120 6 135448302 frameshift variant T/- delins
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs863225142
rs863225142
AHI1
1.000 0.120 6 135465827 stop gained T/A;C snv 6.3E-06
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs863225143
rs863225143
AHI1
1.000 0.120 6 135455818 stop gained C/T snv 1.3E-05 7.0E-06
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015