rs121908332, KCNK9

N. diseases: 5
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.
Birk-Barel Mental Retardation Dysmorphism Syndrome
CUI: C2676770
Disease: Birk-Barel Mental Retardation Dysmorphism Syndrome
1 0.882 0.240 8 139618677 missense variant C/G;T snv 0.820 0.667 3 2008 2020
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.882 0.240 8 139618677 missense variant C/G;T snv 0.010 1.000 1 2016 2016
Developmental Disabilities
CUI: C0008073
Disease: Developmental Disabilities
19 0.882 0.240 8 139618677 missense variant C/G;T snv 0.010 1.000 1 2014 2014
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.240 8 139618677 missense variant C/G;T snv 0.010 1.000 1 2016 2016
Peripheral motor neuropathy
CUI: C0235025
Disease: Peripheral motor neuropathy
20 0.882 0.240 8 139618677 missense variant C/G;T snv 0.010 1 2020 2020