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: rs121908702
rs121908702
4 0.882 0.120 22 28711986 stop gained C/A;G;T snv 8.0E-06; 4.0E-06; 7.6E-05 0.700 0
dbSNP: rs121908982
rs121908982
1 1.000 7 2225526 missense variant G/A snv 3.1E-03 3.1E-03 0.700 0
dbSNP: rs121909139
rs121909139
1 1.000 10 3781971 missense variant A/G snv 0.700 0
dbSNP: rs121909140
rs121909140
1 1.000 10 3781907 stop gained G/A;C;T snv 1.2E-05 0.700 0
dbSNP: rs121909141
rs121909141
1 1.000 10 3781949 missense variant G/T snv 0.700 0
dbSNP: rs121909142
rs121909142
1 1.000 10 3782127 missense variant A/G snv 0.700 0
dbSNP: rs121909143
rs121909143
1 1.000 10 3781811 missense variant A/G snv 0.700 0
dbSNP: rs137852571
rs137852571
AR
3 0.882 0.080 X 67717495 missense variant G/A snv 7.7E-05 1.9E-05 0.700 0
dbSNP: rs137852578
rs137852578
AR
10 0.827 0.080 X 67723710 missense variant A/G snv 0.700 0
dbSNP: rs137852580
rs137852580
AR
2 0.925 0.080 X 67723711 missense variant C/G;T snv 0.700 0
dbSNP: rs137852581
rs137852581
AR
5 0.882 0.080 X 67723701 missense variant C/T snv 0.700 0
dbSNP: rs137852582
rs137852582
AR
2 0.925 0.080 X 67723786 missense variant A/G snv 0.700 0
dbSNP: rs137852583
rs137852583
AR
2 0.925 0.080 X 67711680 missense variant G/A snv 0.700 0
dbSNP: rs137852584
rs137852584
AR
2 0.925 0.080 X 67711459 missense variant G/A snv 0.700 0
dbSNP: rs137853009
rs137853009
2 0.925 0.080 22 28725030 missense variant C/A;T snv 4.0E-06; 6.0E-05 0.700 0
dbSNP: rs606231169
rs606231169
2 0.925 0.080 10 87957978 frameshift variant AAGTA/- delins 0.700 0
dbSNP: rs606231170
rs606231170
2 0.925 0.080 10 87952189 stop gained T/A snv 0.700 0
dbSNP: rs727502780
rs727502780
1 1.000 16 72788111 inframe insertion TAGTTGCCGCTGCTGCTGCTGCTG/-;TAGTTGCCGCTGCTGCTGCTGCTGTAGTTGCCGCTGCTGCTGCTGCTG delins 3.4E-04 0.700 0