Source: UNIPROT

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: rs727502819
rs727502819
KCNH1
0.925 0.280 1 210804149 missense variant T/C snv
CUI: C2678486
Disease: Temple-Baraitser Syndrome
Temple-Baraitser Syndrome 		0.800 0
dbSNP: rs727502819
rs727502819
KCNH1
0.925 0.280 1 210804149 missense variant T/C snv
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		0.800 0