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: rs41328049
rs41328049
1 1.000 0.080 16 173207 missense variant G/A;C snv 3.0E-05 0.700 0
dbSNP: rs41457746
rs41457746
1 1.000 0.080 16 173123 splice acceptor variant A/G snv 3.7E-05 0.700 0
dbSNP: rs63751457
rs63751457
1 1.000 0.080 16 172981 synonymous variant C/T snv 3.7E-05 0.700 0
dbSNP: rs11886868
rs11886868
12 0.752 0.280 2 60493111 intron variant C/T snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs122445108
rs122445108
7 0.807 0.320 X 77717155 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1265843445
rs1265843445
2 0.925 0.080 16 177311 missense variant T/G snv 4.0E-06 0.010 1.000 1 1990 1990
dbSNP: rs1427407
rs1427407
6 0.827 0.120 2 60490908 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs281864810
rs281864810
2 0.925 0.080 16 172955 missense variant T/A;C snv 0.010 1.000 1 1984 1984
dbSNP: rs281864855
rs281864855
2 0.925 0.080 16 173246 missense variant C/G;T snv 0.010 1.000 1 1979 1979
dbSNP: rs28928875
rs28928875
2 0.925 0.080 16 177056 missense variant G/A;C snv 0.010 1.000 1 1979 1979
dbSNP: rs33964317
rs33964317
3 0.925 0.080 16 176759 missense variant T/A;C;Y snv 1.7E-04 1.4E-05 0.010 1.000 1 1984 1984
dbSNP: rs3783613
rs3783613
6 0.851 0.200 1 100731231 missense variant G/A;C snv 4.0E-06; 9.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs41479844
rs41479844
2 0.925 0.080 16 173500 missense variant T/G snv 0.010 1.000 1 1990 1990
dbSNP: rs4671393
rs4671393
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs66650371
rs66650371
3 0.925 0.080 6 135097495 intron variant CTA/-;CTACTA delins 0.19 0.010 1.000 1 2016 2016