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: rs35993949
rs35993949
CPA6
9 0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03 0.700 0
dbSNP: rs61738009
rs61738009
CPA6 ; LOC102724708
11 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.700 0
dbSNP: rs727502818
rs727502818
KCNC1
26 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0