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: rs397516172
rs397516172
2 0.925 0.080 14 23424036 inframe deletion CTC/- delins 0.700 1.000 5 1998 2017
dbSNP: rs397516269
rs397516269
4 0.882 0.080 14 23431426 missense variant A/G snv 4.0E-06 0.700 1.000 3 1998 2017
dbSNP: rs371898076
rs371898076
9 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.710 1.000 17 1999 2016
dbSNP: rs397516127
rs397516127
9 0.763 0.160 14 23426834 missense variant G/A;C snv 0.700 1.000 14 1999 2019
dbSNP: rs3218716
rs3218716
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 1.000 10 1999 2014
dbSNP: rs727504240
rs727504240
2 0.925 0.080 14 23426046 missense variant G/A snv 2.0E-05 1.4E-05 0.700 1.000 7 1999 2017
dbSNP: rs121913642
rs121913642
3 0.925 0.080 14 23427879 missense variant A/G snv 0.700 1.000 5 2000 2017
dbSNP: rs730880750
rs730880750
4 0.851 0.080 14 23424843 missense variant G/A;C;T snv 0.010 1.000 1 2000 2000
dbSNP: rs397516209
rs397516209
3 0.882 0.080 14 23432713 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 16 2001 2016
dbSNP: rs727503278
rs727503278
3 0.882 0.080 14 23432714 missense variant G/A;C;T snv 2.8E-05 0.700 1.000 11 2001 2017
dbSNP: rs267606908
rs267606908
9 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 7 2002 2014
dbSNP: rs397516202
rs397516202
3 0.882 0.080 14 23418244 missense variant C/A;T snv 7.0E-06 0.700 1.000 3 2002 2013
dbSNP: rs397516201
rs397516201
3 0.882 0.080 14 23418249 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 12 2003 2017
dbSNP: rs727503261
rs727503261
3 0.882 0.080 14 23425774 missense variant A/G;T snv 0.700 1.000 10 2003 2015
dbSNP: rs397516088
rs397516088
4 0.882 0.080 14 23429850 missense variant C/G;T snv 0.700 1.000 9 2003 2019
dbSNP: rs397516260
rs397516260
4 0.882 0.080 14 23431789 missense variant C/A;T snv 1.6E-05 0.700 1.000 8 2003 2017
dbSNP: rs727503260
rs727503260
4 0.851 0.080 14 23425403 missense variant C/G;T snv 0.700 1.000 8 2003 2017
dbSNP: rs886039030
rs886039030
2 0.925 0.080 14 23426045 missense variant C/T snv 4.0E-06 2.8E-05 0.700 1.000 8 2003 2017
dbSNP: rs376897125
rs376897125
3 0.882 0.080 14 23430601 missense variant C/T snv 1.6E-05 2.1E-05 0.700 1.000 7 2003 2017
dbSNP: rs397516157
rs397516157
3 0.882 0.080 14 23424893 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 7 2003 2017
dbSNP: rs727504273
rs727504273
3 0.925 0.080 14 23431781 missense variant T/G snv 7.0E-06 0.700 1.000 7 2003 2017
dbSNP: rs727503252
rs727503252
3 0.882 0.080 14 23424047 missense variant C/T snv 0.700 1.000 5 2003 2017
dbSNP: rs727503263
rs727503263
3 0.882 0.080 14 23426810 missense variant G/A snv 0.700 1.000 5 2003 2017
dbSNP: rs2069544
rs2069544
3 0.882 0.080 14 23425371 missense variant G/A;C;T snv 2.9E-04 0.700 1.000 3 2003 2012
dbSNP: rs202141173
rs202141173
3 0.882 0.080 14 23424842 missense variant C/T snv 2.4E-05 9.1E-05 0.700 1.000 16 2004 2019