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: rs201951824
rs201951824
2 0.925 0.080 7 50476625 missense variant C/T snv 4.8E-05 2.8E-05 0.800 1.000 4 2004 2010
dbSNP: rs137853207
rs137853207
1 1.000 7 50539926 missense variant C/T snv 4.0E-06 7.0E-06 0.800 1.000 2 2004 2004
dbSNP: rs137853208
rs137853208
3 0.925 0.080 7 50504025 missense variant G/A snv 0.800 1.000 2 2004 2004
dbSNP: rs137853209
rs137853209
1 1.000 7 50495369 missense variant A/G snv 0.800 1.000 2 2004 2004
dbSNP: rs137853210
rs137853210
1 1.000 7 50529339 missense variant T/G snv 0.800 1.000 2 2004 2004
dbSNP: rs137853211
rs137853211
1 1.000 7 50539958 missense variant G/A;T snv 3.6E-05 0.800 1.000 2 2004 2004
dbSNP: rs137853212
rs137853212
1 1.000 7 50499201 missense variant C/G;T snv 1.2E-05 0.800 1.000 2 2004 2004
dbSNP: rs1276093487
rs1276093487
1 1.000 7 50470173 splice acceptor variant T/C snv 0.700 1.000 2 2004 2010
dbSNP: rs142110773
rs142110773
13 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1554411234
rs1554411234
5 1.000 7 50463322 missense variant C/A snv 0.700 0
dbSNP: rs771317809
rs771317809
6 0.925 0.080 7 50470140 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs780542462
rs780542462
1 1.000 7 50543946 missense variant G/A;T snv 1.2E-05 0.700 0
dbSNP: rs1181496880
rs1181496880
2 0.925 0.080 7 50539915 missense variant C/A;G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1285477390
rs1285477390
2 0.925 0.080 7 50539944 missense variant C/T snv 1.2E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs746244631
rs746244631
2 0.925 0.080 7 50539970 missense variant G/A snv 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs766408460
rs766408460
DDC
2 0.925 0.080 7 50544079 missense variant C/T snv 2.0E-05 0.010 1.000 1 2016 2016