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: rs387906983
rs387906983
1 1.000 4 39215913 missense variant T/G snv 0.800 1.000 1 2011 2011
dbSNP: rs79436363
rs79436363
3 0.882 4 39273029 missense variant G/A snv 5.5E-05 1.5E-04 0.700 1.000 3 2013 2016
dbSNP: rs748656635
rs748656635
3 0.882 0.120 4 39205626 frameshift variant -/A delins 3.6E-05 4.2E-05 0.700 1.000 2 2013 2013
dbSNP: rs587777350
rs587777350
1 1.000 4 39205232 stop gained C/T snv 0.700 0
dbSNP: rs587777351
rs587777351
2 0.925 4 39274945 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs786205114
rs786205114
1 1.000 4 39255913 stop gained -/A delins 0.700 0