Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554430943
rs1554430943
KCNH2
4 0.925 0.160 7 150974821 missense variant C/T snv 0.700 0
dbSNP: rs28935195
rs28935195
GLA ; RPL36A-HNRNPH2
2 0.925 0.200 X 101401713 missense variant C/T snv 0.010 1.000 1 2010 2010