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: rs201257588
rs201257588
9 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.700 1.000 2 2014 2014
dbSNP: rs398122965
rs398122965
13 0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05 0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966
9 0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs398122967
rs398122967
12 0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05 0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
9 0.882 0.280 16 2499425 splice region variant G/A snv 0.700 1.000 2 2014 2014
dbSNP: rs747821285
rs747821285
9 0.882 0.280 16 2496476 missense variant G/A snv 4.1E-06 0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458
9 0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548
9 0.882 0.280 16 2498253 missense variant G/T snv 0.700 1.000 2 2014 2014
dbSNP: rs527656756
rs527656756
21 0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs797044484
rs797044484
10 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
dbSNP: rs137853066
rs137853066
7 0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs1554358720
rs1554358720
1 1.000 0.120 7 107690135 frameshift variant -/T delins 0.700 0
dbSNP: rs1554887097
rs1554887097
10 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
dbSNP: rs1555575860
rs1555575860
31 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
dbSNP: rs1555783467
rs1555783467
6 0.882 0.120 20 761120 missense variant C/T snv 0.700 0
dbSNP: rs1556445736
rs1556445736
5 0.925 0.200 X 108667167 synonymous variant A/G snv 0.700 0
dbSNP: rs1564405163
rs1564405163
6 0.807 0.280 10 8073746 missense variant G/C snv 0.700 0
dbSNP: rs1565679039
rs1565679039
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
dbSNP: rs375761361
rs375761361
9 0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05 0.700 0
dbSNP: rs397507478
rs397507478
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
dbSNP: rs80338939
rs80338939
14 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 0
dbSNP: rs864309499
rs864309499
9 0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs104894401
rs104894401
4 0.851 0.120 13 20189154 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs138490803
rs138490803
3 0.925 0.120 16 19074000 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1417146153
rs1417146153
1 1.000 0.120 7 107710131 missense variant C/G snv 4.0E-06 0.010 1.000 1 2015 2015