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: rs1377083279
rs1377083279
2 0.925 0.240 7 255998 missense variant C/T snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs148276213
rs148276213
1 1.000 0.200 7 256004 missense variant T/A snv 4.8E-03 5.9E-03 0.010 1.000 1 2018 2018
dbSNP: rs267606795
rs267606795
1 1.000 0.200 7 255869 missense variant G/C snv 0.700 0
dbSNP: rs778899041
rs778899041
2 0.925 0.240 7 208916 missense variant C/T snv 2.5E-05 7.0E-06 0.700 1.000 3 2007 2015
dbSNP: rs779708323
rs779708323
1 1.000 0.200 7 208951 missense variant G/A;T snv 4.9E-06; 9.8E-06 0.700 0
dbSNP: rs796051849
rs796051849
1 1.000 0.200 7 255939 missense variant T/G snv 0.800 0
dbSNP: rs796051850
rs796051850
1 1.000 0.200 7 259870 missense variant C/T snv 1.4E-05 1.4E-05 0.800 0
dbSNP: rs796051851
rs796051851
1 1.000 0.200 7 248312 splice region variant C/G snv 0.700 0
dbSNP: rs796051852
rs796051852
1 1.000 0.200 7 255912 missense variant G/A snv 0.800 0
dbSNP: rs796051853
rs796051853
1 1.000 0.200 7 257003 splice acceptor variant A/G snv 0.700 0
dbSNP: rs796051854
rs796051854
1 1.000 0.200 7 246512 splice region variant G/C snv 0.700 0
dbSNP: rs796051855
rs796051855
1 1.000 0.200 7 258645 splice acceptor variant G/A snv 0.700 0
dbSNP: rs796051874
rs796051874
1 1.000 0.200 7 195685 missense variant T/A;C snv 0.700 0
dbSNP: rs796051875
rs796051875
1 1.000 0.200 7 208909 missense variant G/A;T snv 1.6E-05 0.700 0
dbSNP: rs797044462
rs797044462
1 1.000 0.200 7 248340 missense variant C/T snv 7.1E-06 0.800 0