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: rs28937873
rs28937873
7 0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04 0.820 1.000 11 2000 2014
dbSNP: rs104894492
rs104894492
1 1.000 0.160 15 71811590 missense variant C/A;T snv 1.3E-05; 3.0E-05; 4.4E-06 2.8E-05 0.800 1.000 8 2000 2013
dbSNP: rs146403122
rs146403122
2 0.925 0.160 15 71811966 missense variant G/A snv 4.3E-03 1.8E-03 0.720 1.000 10 2000 2019
dbSNP: rs377257254
rs377257254
2 1.000 0.160 15 71813408 missense variant C/A;T snv 3.7E-05; 2.1E-05 0.710 1.000 1 2007 2007
dbSNP: rs104894493
rs104894493
1 1.000 0.160 15 71811591 missense variant G/A snv 2.0E-04 3.1E-04 0.700 1.000 8 2000 2013
dbSNP: rs1278137915
rs1278137915
1 1.000 0.160 15 71811783 missense variant G/A;T snv 0.700 1.000 8 2000 2013
dbSNP: rs1489149705
rs1489149705
1 1.000 0.160 15 71811810 missense variant G/A snv 2.1E-05 0.700 1.000 8 2000 2013
dbSNP: rs752883545
rs752883545
1 1.000 0.160 15 71814024 missense variant T/C snv 8.2E-06 7.0E-06 0.700 1.000 8 2000 2013
dbSNP: rs1555454566
rs1555454566
3 0.882 0.160 15 71811553 inframe deletion ACGGCTGCA/- delins 0.700 1.000 7 2000 2016
dbSNP: rs2723341
rs2723341
8 0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 0.700 1.000 2 2004 2008
dbSNP: rs1303613101
rs1303613101
1 1.000 0.160 15 71817671 missense variant T/A;C snv 8.1E-06; 4.0E-06 0.700 0
dbSNP: rs1567159701
rs1567159701
1 1.000 0.160 15 71811559 inframe deletion GCAGCGGCT/- delins 0.700 0
dbSNP: rs762991211
rs762991211
NRL
1 1.000 0.160 14 24082758 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs766769900
rs766769900
1 1.000 0.160 15 71817605 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs774102273
rs774102273
1 1.000 0.160 15 71813566 missense variant C/G;T snv 4.1E-06; 8.2E-06 0.700 0
dbSNP: rs990307718
rs990307718
1 1.000 0.160 15 71811830 missense variant C/T snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs1012493577
rs1012493577
1 1.000 0.160 15 71811768 missense variant G/A snv 1.3E-05 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs759629930
rs759629930
1 1.000 0.160 15 71814020 missense variant G/C snv 8.2E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs766096417
rs766096417
3 0.925 0.160 15 71811831 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs779710488
rs779710488
NRL
1 1.000 0.160 14 24082491 missense variant C/T snv 8.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs781915220
rs781915220
2 0.925 0.160 X 154150787 missense variant A/G snv 5.5E-06 0.010 1.000 1 2019 2019