Disease: JOUBERT SYNDROME 21 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863225190
rs863225190 		1.000 8 67164396 frameshift variant A/- delins
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 2 2014 2015
dbSNP: rs1554562278
rs1554562278 		1.000 8 67086061 frameshift variant TA/- delins
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs374703898
rs374703898 		1.000 8 67111983 stop gained C/A;T snv 4.1E-06; 2.0E-05
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs375113643
rs375113643 		1.000 8 67095440 stop gained C/T snv 5.2E-05 4.2E-05
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs587777138
rs587777138 		1.000 8 67158540 stop gained C/T snv 3.7E-05 4.2E-05
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2014 2014
dbSNP: rs587777139
rs587777139 		1.000 8 67158463 frameshift variant AA/- delins
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs587777140
rs587777140 		1.000 8 67158500 frameshift variant A/- del
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs587777141
rs587777141 		1.000 8 67190655 stop gained -/A delins
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs587777142
rs587777142 		1.000 8 67172556 splice donor variant G/A;T snv 8.1E-06
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs587777143
rs587777143 		1.000 8 67161814 frameshift variant AT/- del 4.0E-06
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs761382780
rs761382780 		1.000 8 67159047 frameshift variant AGAA/- delins 1.6E-05
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs771203308
rs771203308 		1.000 8 67158480 stop gained C/T snv 1.6E-05
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs773954226
rs773954226 		1.000 8 67179927 splice donor variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs863225191
rs863225191 		1.000 8 67159050 frameshift variant AGAAGAA/-;AGAAGAAAGAAGAA delins
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs863225192
rs863225192 		1.000 8 67093588 frameshift variant A/- del
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs863225193
rs863225193 		1.000 8 67118822 splice donor variant G/T snv 7.0E-06
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs863225194
rs863225194 		1.000 8 67095733 splice donor variant G/C snv
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 1.000 1 2015 2015
dbSNP: rs1380418532
rs1380418532 		1.000 8 67172417 stop gained A/T snv 1.4E-05
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 0
dbSNP: rs1402669959
rs1402669959 		1.000 8 67154115 stop gained C/A snv 4.1E-06
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 0
dbSNP: rs1554604482
rs1554604482 		1.000 8 67159122 frameshift variant -/G delins
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 0
dbSNP: rs1554614893
rs1554614893 		1.000 8 67172404 splice acceptor variant TATCTATAGGAAAAAGGAAAGGAATCCCATGGATATATTTGATATGGCTAGACATCGGTTGCAAGCTCCTGTCAGAAGACAGTCCCCTAAGGGCTTAGACGCTGCCACTTTTCAGAATGTTCATGATTTTAATGAGCTGAAAGATAGAGGTGAGTAGATT/- delins
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 0
dbSNP: rs1563720581
rs1563720581 		1.000 8 67161812 frameshift variant A/- del
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 0
dbSNP: rs537456518
rs537456518 		1.000 8 67164468 stop gained C/G;T snv 8.0E-06; 1.2E-05
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 0
dbSNP: rs587777145
rs587777145 		0.925 0.040 8 67158463 frameshift variant AAGA/- delins
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 0
dbSNP: rs587777146
rs587777146 		1.000 8 67095434 stop gained C/T snv
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.700 0