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: rs121434309
rs121434309
1 1.000 0.040 13 48411859 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 1 2008 2008
dbSNP: rs879255262
rs879255262
1 1.000 0.040 13 48412236 missense variant T/A;C snv 0.800 1.000 1 2008 2008
dbSNP: rs121434308
rs121434308
1 1.000 0.040 13 48411988 missense variant C/T snv 8.6E-06 7.0E-06 0.700 1.000 2 2008 2014
dbSNP: rs121434307
rs121434307
2 0.925 0.040 13 48411862 missense variant T/A;C snv 3.2E-05; 8.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs766783183
rs766783183
2 0.925 0.040 17 40750961 missense variant A/G snv 3.6E-05 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs115596308
rs115596308
1 1.000 0.040 13 48411837 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121434306
rs121434306
1 1.000 0.040 13 48411961 stop gained G/A snv 0.700 0
dbSNP: rs1566212378
rs1566212378
1 1.000 0.040 13 48412050 frameshift variant TT/- delins 0.700 0