rs730882245, KIAA1109

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
ALKURAYA-KUCINSKAS SYNDROME
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
8 0.827 0.160 4 122207168 stop gained T/A snv 0.700 0
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.827 0.160 4 122207168 stop gained T/A snv 0.700 0
Dandy-Walker Syndrome
CUI: C0010964
Disease: Dandy-Walker Syndrome
9 0.827 0.160 4 122207168 stop gained T/A snv 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.827 0.160 4 122207168 stop gained T/A snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.827 0.160 4 122207168 stop gained T/A snv 0.700 0
Pleural effusion disorder
CUI: C0032227
Disease: Pleural effusion disorder
14 0.827 0.160 4 122207168 stop gained T/A snv 0.700 0