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: rs137853217
rs137853217
1 1.000 5 87369821 missense variant G/A snv 0.800 1.000 2 2003 2013
dbSNP: rs145752649
rs145752649
1 1.000 5 87363477 missense variant A/G snv 1.5E-03 5.8E-04 0.700 1.000 2 2003 2013
dbSNP: rs373098580
rs373098580
1 1.000 5 87376984 missense variant A/T snv 1.5E-03 2.9E-04 0.700 1.000 2 2003 2013
dbSNP: rs137853218
rs137853218
1 1.000 5 87333291 stop gained C/T snv 0.700 0
dbSNP: rs1554044823
rs1554044823
3 0.882 0.120 5 87331464 stop gained C/G snv 0.700 0
dbSNP: rs797044451
rs797044451
2 0.925 0.120 5 87268922 frameshift variant CT/- delins 0.700 0
dbSNP: rs863223718
rs863223718
2 0.925 5 87376512 stop gained C/T snv 0.700 0