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: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 5 2010 2018
dbSNP: rs2280401
rs2280401
5 19 49496752 intron variant G/A snv 0.12 0.800 1.000 2 2011 2012
dbSNP: rs34121855
rs34121855
1 7 73626484 upstream gene variant T/C;G snv 0.800 1.000 2 2012 2018
dbSNP: rs780092
rs780092
10 0.827 0.160 2 27520287 intron variant A/G snv 0.18 0.800 1.000 2 2011 2012
dbSNP: rs11078597
rs11078597
2 17 1715069 intron variant T/C snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs11671010
rs11671010
2 19 35068570 intron variant T/C snv 0.11 0.800 1.000 1 2012 2012
dbSNP: rs12914385
rs12914385
18 0.790 0.160 15 78606381 intron variant C/A;T snv 0.800 1.000 1 2012 2012
dbSNP: rs16948098
rs16948098
2 15 43927409 intron variant G/A snv 9.5E-02 0.800 1.000 1 2012 2012
dbSNP: rs2293579
rs2293579
2 11 47419207 intron variant G/A snv 0.35 0.30 0.800 1.000 1 2012 2012
dbSNP: rs4806073
rs4806073
2 19 35064286 intron variant T/C snv 0.85 0.800 1.000 1 2012 2012
dbSNP: rs694419
rs694419
2 18 62458879 regulatory region variant T/C snv 0.53 0.800 1.000 1 2012 2012
dbSNP: rs174548
rs174548
17 0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 0.700 1.000 3 2008 2013
dbSNP: rs4775041
rs4775041
8 1.000 0.040 15 58382496 intron variant G/C snv 0.24 0.700 1.000 3 2008 2013
dbSNP: rs102275
rs102275
18 0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 0.700 1.000 2 2012 2013
dbSNP: rs10468017
rs10468017
12 0.851 0.120 15 58386313 intron variant C/T snv 0.24 0.700 1.000 2 2012 2013
dbSNP: rs108499
rs108499
2 11 61779765 intron variant C/T snv 0.27 0.700 1.000 2 2012 2013
dbSNP: rs1535
rs1535
24 0.752 0.240 11 61830500 intron variant A/G snv 0.31 0.700 1.000 2 2012 2013
dbSNP: rs174449
rs174449
2 11 61872907 downstream gene variant G/A snv 0.54 0.700 1.000 2 2012 2013
dbSNP: rs174455
rs174455
5 1.000 0.080 11 61888645 intron variant G/A;C snv 0.700 1.000 2 2012 2013
dbSNP: rs174528
rs174528
5 1.000 0.080 11 61776027 intron variant T/C snv 0.42 0.42 0.700 1.000 2 2012 2013
dbSNP: rs174534
rs174534
3 1.000 0.080 11 61781986 non coding transcript exon variant A/G snv 0.28 0.700 1.000 2 2012 2013
dbSNP: rs174535
rs174535
19 0.776 0.280 11 61783884 missense variant T/A;C;G snv 0.38 0.32 0.700 1.000 2 2012 2013
dbSNP: rs174536
rs174536
3 11 61784455 non coding transcript exon variant A/C snv 0.29 0.700 1.000 2 2012 2013
dbSNP: rs174537
rs174537
23 0.708 0.400 11 61785208 non coding transcript exon variant G/T snv 0.28 0.700 1.000 2 2012 2013
dbSNP: rs174538
rs174538
21 0.701 0.440 11 61792609 5 prime UTR variant G/A snv 0.34 0.26 0.700 1.000 2 2012 2013