rs730882175, KCNH1

N. diseases: 3
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.
ZIMMERMANN-LABAND SYNDROME 1
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
7 1.000 0.120 1 210804143 missense variant C/T snv 0.800 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 0.120 1 210804143 missense variant C/T snv 0.700 1.000 8 1998 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 1.000 0.120 1 210804143 missense variant C/T snv 0.700 1.000 8 1998 2016