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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.833 42 2003 2018
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.833 42 2003 2018
dbSNP: rs3803662
rs3803662
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.800 0.950 40 2007 2019
dbSNP: rs2981582
rs2981582
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.800 0.971 35 2007 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.813 32 2004 2019
dbSNP: rs2046210
rs2046210
21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.800 1.000 26 2009 2019
dbSNP: rs397507595
rs397507595
1 1.000 0.080 13 32319167 missense variant A/G snv 0.700 1.000 25 1997 2014
dbSNP: rs397507822
rs397507822
1 1.000 0.080 13 32326584 missense variant C/G;T snv 0.700 1.000 25 1997 2014
dbSNP: rs397507847
rs397507847
1 1.000 0.080 13 32340739 missense variant A/C;G snv 0.700 1.000 25 1997 2014
dbSNP: rs397507873
rs397507873
1 1.000 0.080 13 32329475 missense variant C/T snv 0.700 1.000 25 1997 2014
dbSNP: rs397507912
rs397507912
4 0.882 0.200 13 32355219 stop gained C/G;T snv 0.700 1.000 25 1997 2014
dbSNP: rs397508869
rs397508869
1 1.000 0.080 17 43094138 missense variant A/C snv 0.700 1.000 25 1994 2017
dbSNP: rs397508893
rs397508893
1 1.000 0.080 17 43093876 missense variant C/A;T snv 0.700 1.000 25 1994 2017
dbSNP: rs397508994
rs397508994
2 0.925 0.080 17 43092856 stop gained A/C;G snv 0.700 1.000 25 1994 2017
dbSNP: rs397509022
rs397509022
1 1.000 0.080 17 43092652 missense variant C/T snv 0.700 1.000 25 1994 2017
dbSNP: rs397509034
rs397509034
1 1.000 0.080 17 43092457 missense variant G/A snv 0.700 1.000 25 1994 2017
dbSNP: rs397509037
rs397509037
1 1.000 0.080 17 43092391 missense variant A/G snv 0.700 1.000 25 1994 2017
dbSNP: rs397509238
rs397509238
1 1.000 0.080 17 43057126 missense variant C/T snv 0.700 1.000 25 1994 2017
dbSNP: rs397509246
rs397509246
1 1.000 0.080 17 43057071 missense variant C/G;T snv 0.700 1.000 25 1994 2017
dbSNP: rs80357034
rs80357034
5 0.882 0.200 17 43067610 missense variant G/A;C;T snv 0.700 1.000 25 1994 2017
dbSNP: rs1219648
rs1219648
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.800 1.000 24 2007 2018
dbSNP: rs889312
rs889312
14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.800 0.952 21 2007 2017
dbSNP: rs13281615
rs13281615
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.800 0.850 20 2007 2016
dbSNP: rs13387042
rs13387042
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.800 1.000 20 2007 2016
dbSNP: rs397507620
rs397507620
1 1.000 0.080 13 32336542 missense variant A/G snv 0.700 1.000 20 1997 2006