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: rs1554117456
rs1554117456 		1.000 5 37245569 stop gained C/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2011 2015
dbSNP: rs1554117456
rs1554117456 		1.000 5 37245569 stop gained C/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 2011 2015
dbSNP: rs1554117456
rs1554117456 		1.000 5 37245569 stop gained C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2011 2015
dbSNP: rs367543061
rs367543061 		1.000 5 37187488 missense variant G/A snv 1.6E-05; 4.0E-06 2.1E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.800 1.000 4 2012 2015
dbSNP: rs141507441
rs141507441 		1.000 5 37125330 stop gained G/A snv 3.2E-05 4.2E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs145520487
rs145520487 		1.000 5 37187826 synonymous variant A/G snv 6.5E-04 8.5E-04
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs147416429
rs147416429 		1.000 5 37153973 stop gained G/A snv 2.0E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs1554084360
rs1554084360 		1.000 5 37184955 frameshift variant T/- delins
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2018 2018
dbSNP: rs200444162
rs200444162 		1.000 5 37182833 missense variant G/T snv 1.2E-05 2.1E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2018 2018
dbSNP: rs300053
rs300053 		5 37075443 regulatory region variant T/G snv 0.58
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs373704405
rs373704405 		1.000 5 37231020 missense variant G/A snv 2.6E-05 2.8E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs530569572
rs530569572 		1.000 5 37226811 stop gained A/C snv 8.4E-05 6.3E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs730882217
rs730882217 		0.925 5 37153962 frameshift variant TC/- del
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs759649053
rs759649053 		1.000 5 37183538 missense variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2018 2018
dbSNP: rs760906097
rs760906097 		1.000 5 37221459 missense variant G/A;T snv 3.5E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs768675259
rs768675259 		1.000 5 37170233 frameshift variant CA/- delins 7.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs770758833
rs770758833 		1.000 5 37125315 frameshift variant C/- delins 4.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs770770257
rs770770257 		1.000 5 37180021 stop gained A/C snv 1.5E-05 2.8E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2018 2018
dbSNP: rs773362418
rs773362418 		1.000 5 37206347 missense variant C/A snv 6.4E-06 7.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs776886962
rs776886962 		1.000 5 37224655 stop gained G/A snv 1.3E-05 6.3E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs779680371
rs779680371 		1.000 5 37244435 frameshift variant A/-;AA delins 1.4E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs794727154
rs794727154 		1.000 5 37221446 missense variant G/A snv 1.4E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2018 2018
dbSNP: rs863225152
rs863225152 		1.000 5 37153784 stop gained G/A snv
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs863225153
rs863225153 		1.000 5 37125324 stop gained C/A snv
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs863225155
rs863225155 		1.000 5 37138742 stop gained C/A snv 7.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015