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: rs143137713
rs143137713
3 0.925 3 148996462 missense variant G/C snv 1.0E-03 1.1E-03 0.800 1.000 2 2014 2017
dbSNP: rs727502871
rs727502871
1 1.000 3 149009278 frameshift variant G/- delins 0.700 1.000 4 2010 2018
dbSNP: rs200947378
rs200947378
1 1.000 3 148994180 missense variant G/A;C snv 8.4E-04; 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1559834349
rs1559834349
2 0.925 3 148996312 stop gained G/T snv 0.700 0
dbSNP: rs370652040
rs370652040
1 1.000 3 148994280 splice region variant G/C;T snv 2.0E-04; 1.6E-05 0.700 0
dbSNP: rs727502869
rs727502869
1 1.000 3 149026850 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs727502870
rs727502870
1 1.000 3 149024193 stop gained G/A snv 0.700 0