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: rs1553521119
rs1553521119
5 0.925 0.120 2 71513892 frameshift variant C/- del 0.700 0
dbSNP: rs1553555585
rs1553555585
2 0.925 0.120 2 71570335 splice donor variant G/T snv 0.700 0
dbSNP: rs200916654
rs200916654
4 0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 0.700 0
dbSNP: rs34997054
rs34997054
1 1.000 0.120 2 71511847 missense variant G/A snv 7.1E-03 4.1E-03 0.700 0
dbSNP: rs770905160
rs770905160
5 0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 0.700 0