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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.833 48 2003 2020
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: rs1136201
rs1136201
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.100 0.895 38 2000 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.813 32 2004 2019
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.800 0.929 28 2001 2016
dbSNP: rs397507595
rs397507595
1 1.000 0.080 13 32319167 missense variant A/G snv 0.700 1.000 25 1997 2014
dbSNP: rs397507674
rs397507674
1 1.000 0.080 13 32337891 missense variant G/A snv 4.0E-06 0.700 1.000 25 1997 2014
dbSNP: rs397507770
rs397507770
1 1.000 0.080 13 32339543 missense variant A/T snv 8.2E-06 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: rs397509218
rs397509218
1 1.000 0.080 17 43067624 missense variant A/G;T snv 4.0E-06 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: rs397509275
rs397509275
1 1.000 0.080 17 43049145 missense variant C/A;G snv 1.2E-05 0.700 1.000 25 1994 2017
dbSNP: rs41293455
rs41293455
6 0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05 0.800 1.000 25 1994 2017
dbSNP: rs45580035
rs45580035
8 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.800 1.000 25 1997 2014