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: rs121912923
rs121912923
3 0.882 0.160 2 188996479 missense variant G/A;C;T snv 0.700 0
dbSNP: rs1553507180
rs1553507180
2 0.925 0.040 2 188988083 frameshift variant C/- delins 0.700 0
dbSNP: rs1553507867
rs1553507867
2 0.925 0.040 2 188994066 missense variant G/A snv 0.700 0
dbSNP: rs1553517181
rs1553517181
2 0.925 0.040 2 189084028 missense variant C/T snv 0.700 0
dbSNP: rs770974455
rs770974455
2 0.925 0.040 2 189045834 missense variant C/A;T snv 8.0E-06 0.700 0
dbSNP: rs869312034
rs869312034
2 0.925 0.160 2 189006260 splice donor variant G/A;T snv 0.700 0
dbSNP: rs104893811
rs104893811
4 0.851 0.160 3 30674228 missense variant C/T snv 0.700 1.000 9 2005 2016
dbSNP: rs104893815
rs104893815
4 0.851 0.240 3 30691478 missense variant G/A snv 0.700 1.000 7 2005 2014
dbSNP: rs886039551
rs886039551
4 0.882 0.120 3 30674186 missense variant G/A snv 0.700 1.000 7 2006 2014
dbSNP: rs104893819
rs104893819
5 0.827 0.240 3 30688470 stop gained C/G;T snv 0.700 1.000 5 2004 2012
dbSNP: rs863223852
rs863223852
4 0.882 0.120 3 30688476 stop gained C/A;T snv 4.0E-06 0.700 1.000 5 2004 2017
dbSNP: rs104893809
rs104893809
3 0.882 0.120 3 30691504 missense variant C/T snv 0.700 1.000 4 2004 2011
dbSNP: rs104893810
rs104893810
7 0.790 0.360 3 30691477 missense variant C/T snv 0.700 1.000 4 2005 2012
dbSNP: rs104893816
rs104893816
3 0.882 0.120 3 30674229 missense variant G/A;T snv 4.0E-06 0.700 1.000 4 2005 2011
dbSNP: rs1553631693
rs1553631693
1 1.000 3 30688383 splice acceptor variant G/A snv 0.700 1.000 4 2006 2010
dbSNP: rs886039106
rs886039106
1 1.000 3 30672361 missense variant G/A snv 0.700 1.000 2 2013 2016
dbSNP: rs863223854
rs863223854
1 1.000 3 30691459 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs104893807
rs104893807
2 0.925 0.120 3 30674196 missense variant C/G;T snv 0.700 0
dbSNP: rs1060501984
rs1060501984
1 1.000 3 30691426 stop gained C/T snv 0.700 0
dbSNP: rs1553630426
rs1553630426
1 1.000 3 30674109 missense variant G/T snv 0.700 0
dbSNP: rs1553808296
rs1553808296
2 0.925 0.040 3 123707752 splice donor variant A/G snv 0.700 0
dbSNP: rs1559472349
rs1559472349
1 1.000 3 30688433 frameshift variant CT/- del 0.700 0
dbSNP: rs387906781
rs387906781
2 0.925 3 123620300 missense variant A/G snv 0.700 0
dbSNP: rs727503475
rs727503475
3 0.882 0.120 3 30688512 splice donor variant G/A;T snv 0.700 0
dbSNP: rs727503477
rs727503477
2 0.925 0.120 3 30691486 missense variant G/A snv 0.700 0