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: rs864309712
rs864309712
KIAA0556 ; LOC105371157
0.925 0.160 16 27749634 stop gained C/T snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs1555497891
rs1555497891
KIAA0556
1.000 16 27775055 frameshift variant A/- del
CUI: C4084843
Disease: JOUBERT SYNDROME 26
JOUBERT SYNDROME 26 		0.700 0
dbSNP: rs864309712
rs864309712
KIAA0556 ; LOC105371157
0.925 0.160 16 27749634 stop gained C/T snv
CUI: C4084843
Disease: JOUBERT SYNDROME 26
JOUBERT SYNDROME 26 		0.700 0