Source: ALL
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: rs1057519639
rs1057519639
2 1.000 0.160 18 2694687 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1057519642
rs1057519642
3 1.000 0.160 18 2697898 missense variant A/T snv 0.700 1.000 1 2017 2017
dbSNP: rs606231409
rs606231409
3 0.925 0.160 X 8732036 start lost T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1569167586
rs1569167586
9 0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 0.700 0