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: rs182018947
rs182018947
2 0.925 15 48767448 stop gained A/C;G snv 2.7E-04; 2.0E-05 0.700 1.000 1 2011 2011
dbSNP: rs200879436
rs200879436
1 1.000 15 48768237 missense variant T/C snv 1.0E-03 4.4E-03 0.700 1.000 1 2011 2011
dbSNP: rs1060499557
rs1060499557
1 1.000 13 24883255 frameshift variant ATGA/- del 0.700 0
dbSNP: rs1349385657
rs1349385657
1 1.000 15 48760134 splice donor variant C/A snv 4.0E-06 0.700 0
dbSNP: rs267606717
rs267606717
2 0.925 15 48793359 missense variant T/G snv 1.2E-05 0.700 0
dbSNP: rs966888627
rs966888627
1 1.000 15 48797660 splice donor variant C/A;G;T snv 4.0E-06; 8.0E-06 0.700 0