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: rs104894503
rs104894503
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.800 1.000 28 1994 2019
dbSNP: rs104894504
rs104894504
2 0.925 0.080 15 63057028 missense variant T/C snv 0.710 1.000 4 2001 2011
dbSNP: rs199476305
rs199476305
2 1.000 0.040 15 63044096 missense variant G/C snv 0.710 1.000 1 2005 2005
dbSNP: rs199476306
rs199476306
3 0.882 0.080 15 63044100 missense variant C/T snv 0.710 1.000 1 1996 1996
dbSNP: rs199476315
rs199476315
5 0.827 0.080 15 63061723 missense variant G/A snv 0.700 1.000 10 2003 2016
dbSNP: rs397516376
rs397516376
1 1.000 0.040 15 63060924 missense variant C/T snv 1.6E-05 7.0E-06 0.700 1.000 3 2015 2017
dbSNP: rs397516486
rs397516486
1 1.000 0.040 15 63061758 missense variant C/G snv 0.700 1.000 1 2004 2004
dbSNP: rs727503518
rs727503518
1 1.000 0.040 15 63062230 missense variant G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs1555409659
rs1555409659
1 1.000 0.040 15 63062214 splice acceptor variant TACTCG/- delins 0.700 0
dbSNP: rs397516372
rs397516372
1 1.000 0.040 15 63059645 missense variant C/G;T snv 0.700 0
dbSNP: rs727504264
rs727504264
1 1.000 0.040 15 63060935 missense variant G/C snv 0.700 0
dbSNP: rs727504290
rs727504290
1 1.000 0.040 15 63042875 missense variant G/C snv 0.700 0
dbSNP: rs104894502
rs104894502
6 0.807 0.120 15 63060915 missense variant A/G;T snv 0.040 1.000 4 2000 2014
dbSNP: rs199476314
rs199476314
4 0.882 0.040 15 63060930 missense variant T/G snv 0.030 1.000 3 2002 2005
dbSNP: rs199476321
rs199476321
3 0.882 0.080 15 63064133 missense variant T/C snv 4.0E-06 1.4E-05 0.020 1.000 2 2019 2019
dbSNP: rs104894501
rs104894501
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs199476301
rs199476301
6 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs199476307
rs199476307
1 1.000 0.040 15 63044121 missense variant A/C snv 0.010 1.000 1 1996 1996
dbSNP: rs199476320
rs199476320
3 0.925 0.040 15 63064121 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs199476322
rs199476322
2 0.925 0.040 15 63064141 missense variant A/G snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs730881131
rs730881131
2 1.000 0.040 15 63057036 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs748196768
rs748196768
1 1.000 0.040 15 63071117 missense variant A/G snv 2.8E-05 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs758264780
rs758264780
4 0.882 0.040 15 63044029 frameshift variant G/- delins 0.010 1.000 1 2005 2005