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: 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: 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: 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