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: rs78311289
rs78311289
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.720 1.000 2 2007 2011
dbSNP: rs587779383
rs587779383
5 0.851 0.120 4 1806157 missense variant A/C;G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.040 1.000 4 1999 2018
dbSNP: rs28931615
rs28931615
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.040 1.000 4 1996 2019