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: rs199473594
rs199473594
1.000 0.120 3 38576676 missense variant C/T snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
0.700 1.000 20 1995 2015