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: rs762162799
rs762162799
8 0.776 0.120 3 48575437 missense variant C/G;T snv 8.6E-06; 4.3E-06; 3.0E-05 0.800 1.000 2 1999 2000
dbSNP: rs121912837
rs121912837
2 1.000 0.080 3 48573047 missense variant C/G;T snv 0.700 1.000 2 1999 2000
dbSNP: rs1203706188
rs1203706188
7 0.790 0.120 3 48593554 stop gained G/A;T snv 7.0E-06 0.700 0
dbSNP: rs121912856
rs121912856
13 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0
dbSNP: rs144023803
rs144023803
9 0.776 0.120 3 48590721 stop gained G/A snv 3.6E-05 2.1E-05 0.700 0
dbSNP: rs200972872
rs200972872
7 0.790 0.120 3 48576249 splice region variant C/T snv 8.8E-05 9.8E-05 0.700 0
dbSNP: rs201728948
rs201728948
7 0.790 0.120 3 48570639 splice region variant C/T snv 3.0E-05 5.6E-05 0.700 0
dbSNP: rs368007918
rs368007918
7 0.790 0.120 3 48591527 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs761234904
rs761234904
7 0.790 0.120 3 48584754 stop gained G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs886058642
rs886058642
8 0.776 0.120 3 48590817 splice acceptor variant C/T snv 0.700 0
dbSNP: rs121912844
rs121912844
2 0.925 0.080 3 48575419 missense variant C/T snv 4.2E-06 0.010 1.000 1 2015 2015