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: rs1384936174
rs1384936174
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.100 1.000 13 2007 2019
dbSNP: rs2076756
rs2076756
5 0.882 0.040 16 50722970 intron variant A/G snv 0.17 0.830 1.000 9 2007 2019
dbSNP: rs5743272
rs5743272
1 1.000 0.040 16 50710966 missense variant A/G snv 9.6E-04 3.8E-03 0.710 1.000 7 2001 2018
dbSNP: rs5743277
rs5743277
2 1.000 0.040 16 50712018 missense variant C/G;T snv 1.2E-05; 3.2E-03 0.710 1.000 7 2001 2016
dbSNP: rs104895420
rs104895420
1 1.000 0.040 16 50699883 missense variant T/C snv 1.3E-04 5.6E-05 0.700 1.000 6 2001 2016
dbSNP: rs104895422
rs104895422
1 1.000 0.040 16 50710614 missense variant C/T snv 1.0E-04 1.3E-04 0.700 1.000 6 2001 2016
dbSNP: rs104895423
rs104895423
1 1.000 0.040 16 50710654 missense variant T/G snv 5.6E-04 2.6E-04 0.700 1.000 6 2001 2016
dbSNP: rs104895424
rs104895424
1 1.000 0.040 16 50710782 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 6 2001 2016
dbSNP: rs104895425
rs104895425
1 1.000 0.040 16 50710792 missense variant C/G snv 1.9E-03 1.5E-03 0.700 1.000 6 2001 2016
dbSNP: rs104895426
rs104895426
1 1.000 0.040 16 50710813 missense variant C/T snv 4.4E-05 4.2E-05 0.700 1.000 6 2001 2016
dbSNP: rs104895427
rs104895427
1 1.000 0.040 16 50710842 missense variant C/A;T snv 5.9E-04 0.700 1.000 6 2001 2016
dbSNP: rs145293873
rs145293873
1 1.000 0.040 16 50711028 missense variant C/T snv 1.8E-04 2.1E-04 0.700 1.000 6 2001 2016
dbSNP: rs2076754
rs2076754
1 1.000 0.040 16 50711206 missense variant C/T snv 1.6E-04 2.3E-04 0.700 1.000 6 2001 2016
dbSNP: rs5743276
rs5743276
1 1.000 0.040 16 50711961 missense variant C/G;T snv 4.1E-04 0.700 1.000 6 2001 2016
dbSNP: rs61747625
rs61747625
1 1.000 0.040 16 50712175 missense variant C/T snv 2.5E-03 3.0E-03 0.700 1.000 6 2001 2016
dbSNP: rs1000113
rs1000113
2 0.925 0.040 5 150860514 intron variant C/T snv 0.13 0.840 1.000 5 2007 2015
dbSNP: rs4409764
rs4409764
3 0.925 0.040 10 99524480 upstream gene variant T/A;G snv 0.820 1.000 5 2010 2019
dbSNP: rs7869487
rs7869487
3 0.882 0.040 9 114818634 intergenic variant C/G;T snv 0.830 1.000 5 2005 2015
dbSNP: rs10761659
rs10761659
3 0.925 0.040 10 62685804 intron variant A/G snv 0.43 0.810 1.000 4 2010 2017
dbSNP: rs11742570
rs11742570
3 0.925 0.040 5 40410482 upstream gene variant T/C;G snv 0.800 1.000 4 2010 2017
dbSNP: rs1292975971
rs1292975971
3 0.925 0.040 16 50711664 synonymous variant C/T snv 4.0E-06 1.4E-05 0.040 1.000 4 2005 2008
dbSNP: rs9858542
rs9858542
BSN
3 0.925 0.040 3 49664550 synonymous variant G/A snv 0.26 0.27 0.810 1.000 4 2007 2010
dbSNP: rs1042058
rs1042058
2 1.000 0.040 10 30439172 synonymous variant T/C snv 0.51 0.45 0.710 1.000 3 2015 2017
dbSNP: rs10495903
rs10495903
2 1.000 0.040 2 43579779 intron variant C/T snv 0.13 0.800 1.000 3 2010 2017
dbSNP: rs145922845
rs145922845
1 1.000 0.040 1 206772393 missense variant C/T snv 1.9E-03 1.8E-03 0.030 0.667 3 2000 2005