Source: CURATED

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: rs17089782
rs17089782
PIBF1
0.925 0.160 13 72835359 missense variant G/A snv 1.5E-02 7.7E-03
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		0.800 0
dbSNP: rs987735817
rs987735817
PIBF1
1.000 13 72965350 missense variant A/C snv 8.0E-06 7.0E-06
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		0.800 0
dbSNP: rs17089782
rs17089782
PIBF1
0.925 0.160 13 72835359 missense variant G/A snv 1.5E-02 7.7E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs561619482
rs561619482
PIBF1
13 72993053 intron variant G/A snv 2.0E-03
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs8002688
rs8002688
PIBF1
13 72985844 intron variant C/T snv 0.12
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2013 2013
dbSNP: rs8002688
rs8002688
PIBF1
13 72985844 intron variant C/T snv 0.12
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 1 2013 2013
dbSNP: rs863225214
rs863225214
PIBF1
1.000 0.160 13 72917105 frameshift variant C/- del
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs144610914
rs144610914
PIBF1
0.882 0.240 13 72908550 missense variant A/G snv 5.8E-05 2.1E-05
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.700 0
dbSNP: rs144610914
rs144610914
PIBF1
0.882 0.240 13 72908550 missense variant A/G snv 5.8E-05 2.1E-05
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		0.700 0
dbSNP: rs539010725
rs539010725
PIBF1
1.000 13 72893914 stop gained C/A;G;T snv 1.6E-05; 4.1E-06; 4.1E-06
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		0.700 0
dbSNP: rs911707459
rs911707459
PIBF1
0.925 0.120 13 72965358 missense variant A/T snv 7.0E-06
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.700 0
dbSNP: rs911707459
rs911707459
PIBF1
0.925 0.120 13 72965358 missense variant A/T snv 7.0E-06
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		0.700 0