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: rs755246809
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05
CUI: C0003467
Disease: Anxiety
Anxiety 		0.700 0
dbSNP: rs755246809
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs755246809
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs755246809
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs755246809
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs755246809
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 0
dbSNP: rs755246809
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs863225135
rs863225135
AHI1
0.882 0.240 6 135427244 missense variant T/C snv 1.4E-05
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.800 1.000 1 2004 2015
dbSNP: rs121434350
rs121434350
AHI1
0.882 0.240 6 135455750 missense variant A/T snv
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.800 1.000 0 2004 2013
dbSNP: rs121434350
rs121434350
AHI1
0.882 0.240 6 135455750 missense variant A/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
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: rs121434351
rs121434351
AHI1
0.925 0.240 6 135433125 missense variant C/T snv 2.8E-05 2.8E-05
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.800 1.000 2 2004 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: rs397514726
rs397514726
AHI1
0.925 0.240 6 135457593 missense variant C/A;T snv 4.0E-05
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.800 1.000 1 2004 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: rs121434351
rs121434351
AHI1
0.925 0.240 6 135433125 missense variant C/T snv 2.8E-05 2.8E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs148000791
rs148000791
AHI1
0.925 0.120 6 135323233 missense variant T/C snv 3.8E-03 1.2E-03
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 0
dbSNP: rs372659908
rs372659908
AHI1
0.925 0.160 6 135433081 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs587783013
rs587783013
AHI1
0.925 0.160 6 135433119 stop gained C/T snv 1.6E-05 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs794729195
rs794729195
AHI1
0.925 0.240 6 135455873 frameshift variant G/- delins
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 0
dbSNP: rs797045223
rs797045223
AHI1
0.925 0.240 6 135442633 stop gained C/A snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0