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: rs387906270
rs387906270
AHI1
1.000 0.120 6 135431212 frameshift variant -/A ins
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 0
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: 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: rs773278338
rs773278338
AHI1
1.000 0.080 6 135428682 stop gained -/CT ins 8.2E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
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: 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: 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: 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: 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: 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: 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: 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: rs905262279
rs905262279
AHI1
1.000 0.160 6 135448418 stop gained AA/- del 4.0E-06 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs587783014
rs587783014
AHI1
1.000 0.120 6 135428648 frameshift variant ACTATAC/- delins
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 0
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: 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: 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: 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
dbSNP: rs797045223
rs797045223
AHI1
0.925 0.240 6 135442633 stop gained C/A snv
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3 		0.700 0
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: 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: 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: 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: 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