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: rs120074185
rs120074185
3 0.925 0.120 11 2776032 missense variant C/A;T snv 1.1E-05; 1.1E-05 0.700 1.000 10 1997 2016
dbSNP: rs199472706
rs199472706
3 0.925 0.120 11 2571391 missense variant C/T snv 4.0E-06 1.0E-04 0.700 1.000 5 2005 2016
dbSNP: rs1554919471
rs1554919471
4 0.925 0.200 11 2768861 frameshift variant G/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1554920808
rs1554920808
3 1.000 0.120 11 2776991 missense variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1554958045
rs1554958045
3 1.000 0.080 11 2445213 stop gained G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs121912504
rs121912504
6 0.851 0.200 7 150951711 missense variant G/A snv 0.700 0
dbSNP: rs1554430943
rs1554430943
4 0.925 0.160 7 150974821 missense variant C/T snv 0.700 0
dbSNP: rs1564821090
rs1564821090
1 11 2572850 missense variant T/C snv 0.700 0
dbSNP: rs199473442
rs199473442
3 1.000 0.120 11 2445103 missense variant C/G;T snv 0.700 0
dbSNP: rs758346045
rs758346045
3 1.000 0.080 21 34449497 stop gained G/A;T snv 2.0E-05; 8.0E-06 0.700 0
dbSNP: rs866294686
rs866294686
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs886041065
rs886041065
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0