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: 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
dbSNP: rs863225144
rs863225144
AHI1
1.000 0.120 6 135433120 missense variant A/G snv 4.0E-06
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs863225145
rs863225145
AHI1
1.000 0.120 6 135438388 missense variant C/T snv
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs863225146
rs863225146
AHI1
1.000 0.120 6 135431220 missense variant C/A snv
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs863225147
rs863225147
AHI1
1.000 0.120 6 135438414 missense variant T/A snv 1.0E-05 3.5E-05
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs863225148
rs863225148
AHI1
1.000 0.120 6 135448285 splice region variant -/GTAA ins
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs121434348
rs121434348
AHI1
1.000 0.120 6 135457594 stop gained G/A snv
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 0
dbSNP: rs121434349
rs121434349
AHI1
1.000 0.120 6 135455775 stop gained G/A;T snv 8.5E-06; 3.8E-05
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 0
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: 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: rs1276908141
rs1276908141
AHI1
1.000 0.160 6 135433187 synonymous variant C/T snv 4.0E-06
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: rs1554208431
rs1554208431
AHI1
1.000 0.160 6 135453426 frameshift variant A/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs1554214237
rs1554214237
AHI1
1.000 0.160 6 135463220 frameshift variant T/- del
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs1554338016
rs1554338016
AHI1
1.000 0.080 6 135429945 missense variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1554347012
rs1554347012
AHI1
1.000 0.040 6 135442577 splice region variant C/A snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs1554350503
rs1554350503
AHI1
1.000 0.160 6 135447109 frameshift variant -/T delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs201391050
rs201391050
AHI1
1.000 0.120 6 135457660 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 0
dbSNP: rs267606641
rs267606641
AHI1
1.000 0.120 6 135447022 stop gained G/A snv 4.0E-06 7.0E-06
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