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: rs45501500
rs45501500
2 0.925 0.040 1 201363390 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs45586240
rs45586240
7 0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs730881098
rs730881098
3 0.882 0.040 1 201365613 missense variant A/C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs730881109
rs730881109
1 1.000 0.040 1 201361322 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs990771026
rs990771026
1 1.000 0.040 1 201359647 missense variant T/C snv 7.0E-06 0.010 1.000 1 2002 2002