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: rs397507545
rs397507545
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2003 2006
dbSNP: rs80338796
rs80338796
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs10228350
rs10228350
2 1.000 0.040 7 114420608 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10242223
rs10242223
1 1.000 0.040 7 3481941 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs10852151
rs10852151
1 1.000 0.040 15 91540065 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs10940767
rs10940767
1 1.000 0.040 5 29001417 intron variant T/A snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs11171710
rs11171710
1 1.000 0.040 12 55974294 intron variant G/A snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs11789015
rs11789015
6 0.882 0.080 9 93953746 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs11901649
rs11901649
3 0.882 0.080 2 21027351 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12268840
rs12268840
6 0.827 0.200 10 129527035 intron variant C/T snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs12465911
rs12465911
2 0.925 0.080 2 150929228 intergenic variant C/T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs12706746
rs12706746
1 1.000 0.040 7 126802805 intron variant G/A snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs12792379
rs12792379
1 1.000 0.040 11 6247316 downstream gene variant G/A snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1297211
rs1297211
1 1.000 0.040 21 14956635 intron variant C/G snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs12974777
rs12974777
1 1.000 0.040 19 18654853 intron variant C/T snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2005 2005
dbSNP: rs13337626
rs13337626
1 1.000 0.040 16 2075833 missense variant T/C;G snv 7.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs13396805
rs13396805
2 0.925 0.080 2 150964998 intergenic variant C/T snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1363119
rs1363119
2 1.000 0.040 19 18333999 downstream gene variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1937450
rs1937450
1 1.000 0.040 1 66013157 intron variant T/G snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs2295778
rs2295778
1 1.000 0.040 10 100536079 missense variant C/G snv 0.25 0.20 0.010 1.000 1 2012 2012
dbSNP: rs2341926
rs2341926
2 0.925 0.080 2 150927414 intergenic variant A/G snv 0.20 0.010 1.000 1 2018 2018