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: rs201304511
rs201304511
3 0.882 0.120 5 177387874 splice donor variant G/A snv 7.8E-05 4.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs201331677
rs201331677
2 0.925 0.120 5 177398090 missense variant C/T snv 3.2E-05 2.8E-05 0.700 1.000 1 2018 2018
dbSNP: rs376131751
rs376131751
2 0.925 0.120 5 177396762 missense variant G/C snv 2.8E-05 1.7E-04 0.700 1.000 1 2018 2018
dbSNP: rs756685605
rs756685605
2 0.925 0.120 5 177397832 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015