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: rs1417036453
rs1417036453
2 0.925 0.080 3 38603999 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs727504801
rs727504801
3 0.925 0.080 3 38560397 frameshift variant G/- delins 0.700 0
dbSNP: rs1805124
rs1805124
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2018 2018
dbSNP: rs45546039
rs45546039
15 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.010 1.000 1 2018 2018