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: rs121912514
rs121912514
KCNH2
0.925 0.120 7 150947729 missense variant G/A;T snv 6.0E-05; 6.0E-06
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.700 1.000 20 1995 2009