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: rs16982345
rs16982345 		1 19 18389912 downstream gene variant G/A snv 0.22 0.710 1.000 2 2018 2018
dbSNP: rs143409503
rs143409503 		1 4 57484898 intergenic variant -/GAGCAGCAGCA;GCA delins 0.32 0.700 1.000 1 2018 2018
dbSNP: rs121908188
rs121908188
SELENON
25 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
dbSNP: rs199564797
rs199564797
SELENON
25 0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs745886248
rs745886248
SELENON
25 0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 0.700 0
dbSNP: rs1891246
rs1891246
RYR2
1 1 237818546 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs790899
rs790899
RYR2
1 1 237794378 intron variant G/A snv 0.65 0.010 1.000 1 2017 2017