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: rs10932019
rs10932019
2 2 203764087 downstream gene variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs11221332
rs11221332
13 0.763 0.280 11 128511079 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs11568821
rs11568821
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs11981433
rs11981433
4 0.882 0.240 7 95425028 intron variant T/C;G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1250552
rs1250552
5 0.882 0.200 10 79298270 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs13010713
rs13010713
5 0.882 0.200 2 181131318 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs13098911
rs13098911
5 0.882 0.200 3 46193709 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs13314993
rs13314993
5 0.882 0.200 3 32973977 regulatory region variant G/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1476330207
rs1476330207
1 19 49660781 frameshift variant G/- delins 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs17035378
rs17035378
5 0.882 0.200 2 68371823 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1772408
rs1772408
2 1 159035859 intron variant A/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs212388
rs212388
8 0.827 0.240 6 159069404 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2292832
rs2292832
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2011 2011
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2013 2013
dbSNP: rs4750316
rs4750316
5 0.882 0.160 10 6351298 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs4810485
rs4810485
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs4819388
rs4819388
9 0.790 0.240 21 44227538 3 prime UTR variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs6421571
rs6421571
6 0.851 0.200 11 118873063 intergenic variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs654690
rs654690
3 1.000 0.080 6 159093746 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs657555
rs657555
4 0.925 0.080 18 12847137 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs6848139
rs6848139
3 1.000 0.040 4 122473886 intergenic variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs7523907
rs7523907
3 1.000 0.080 1 167458010 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs756207760
rs756207760
2 2 136115275 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1999 1999