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: rs267606819
rs267606819
1 1.000 0.160 1 212859173 missense variant G/A snv 0.800 1.000 2 2010 2011
dbSNP: rs267606820
rs267606820
1 1.000 0.160 1 212858813 missense variant A/G snv 4.0E-06 0.800 1.000 2 2010 2011
dbSNP: rs267606821
rs267606821
1 1.000 0.160 1 212859026 missense variant T/C snv 2.0E-05 2.8E-05 0.800 1.000 2 2010 2011
dbSNP: rs1558121050
rs1558121050
1 1.000 0.160 1 212889209 missense variant G/C snv 0.700 0
dbSNP: rs556788423
rs556788423
1 1.000 0.160 1 212883443 splice region variant G/A snv 2.4E-04 3.1E-04 0.700 0
dbSNP: rs753000469
rs753000469
4 0.851 0.200 1 212859113 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017