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: rs199473325
rs199473325
1.000 0.120 3 38550671 stop gained C/A;G;T snv 3.2E-05; 2.0E-05
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
0.700 1.000 20 1995 2015