Source: CURATED ×
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: rs10500279
rs10500279
RYR1
1 1.000 0.080 19 38544428 intron variant G/C snv 5.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs121908596
rs121908596
MAP2K1
7 0.807 0.240 15 66436837 missense variant G/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1436109
rs1436109
NCAM1
3 1.000 0.080 11 113120896 intron variant G/T snv 8.5E-02 0.700 1.000 1 2011 2011
dbSNP: rs201278114
rs201278114
MYBPC3
3 0.925 0.120 11 47352635 missense variant C/A;G snv 4.3E-06; 3.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs2071090
rs2071090
RYR1
1 1.000 0.080 19 38524814 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs2960321
rs2960321
RYR1
1 1.000 0.080 19 38557523 intron variant C/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs1060501439
rs1060501439
MYH7
4 0.925 0.080 14 23424938 missense variant T/A snv 0.700 0
dbSNP: rs397516037
rs397516037
MYBPC3
4 0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs768079285
rs768079285
NEBL
2 1.000 0.080 10 20840824 frameshift variant T/- delins 8.0E-06 0.700 0
dbSNP: rs869312687
rs869312687
RIT1
8 0.925 0.080 1 155910695 missense variant T/G snv 0.700 0