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: rs34637584
rs34637584
1 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.900 0.996 2 2005 2020
dbSNP: rs34778348
rs34778348
1 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.900 0.925 1 2006 2019
dbSNP: rs1491942
rs1491942
1 1.000 0.040 12 40227006 intron variant C/G snv 0.23 0.800 1.000 4 2011 2014
dbSNP: rs28903073
rs28903073
1 1.000 0.040 12 40259708 intron variant G/A snv 2.4E-03 0.800 1.000 1 2011 2016
dbSNP: rs11564273
rs11564273
1 1.000 0.040 12 40204350 intron variant T/G snv 6.5E-02 0.700 1.000 1 2012 2012