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: rs779124360
rs779124360
KCNE1
0.925 0.200 21 34449585 stop gained C/T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs779124360
rs779124360
KCNE1
0.925 0.200 21 34449585 stop gained C/T snv 4.0E-06
CUI: C2676723
Disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) 		0.700 0