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: rs1047731829
rs1047731829
1 1.000 0.040 19 11120186 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs1279368649
rs1279368649
1 1.000 0.040 19 11120146 missense variant C/T snv 2.1E-05 0.010 1.000 1 1996 1996
dbSNP: rs1308646934
rs1308646934
1 1.000 0.040 19 11129527 missense variant C/T snv 0.010 1.000 1 1996 1996
dbSNP: rs16827671
rs16827671
1 1.000 0.040 1 150766283 upstream gene variant T/C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs4823613
rs4823613
1 1.000 0.040 22 46202410 intron variant A/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs761675397
rs761675397
1 1.000 0.040 4 88114965 missense variant T/C snv 2.8E-05 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs770937716
rs770937716
1 1.000 0.040 19 11107405 missense variant G/C snv 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs879254894
rs879254894
1 1.000 0.040 19 11113593 missense variant A/G snv 0.010 < 0.001 1 2015 2015
dbSNP: rs879255203
rs879255203
1 1.000 0.040 19 11129534 missense variant T/C snv 2.4E-05 2.1E-05 0.010 1.000 1 2004 2004
dbSNP: rs1468271
rs1468271
2 1.000 0.040 7 24287362 intron variant C/T snv 0.97 0.020 1.000 2 2008 2009
dbSNP: rs2241220
rs2241220
2 1.000 0.040 12 109237224 synonymous variant T/A;C;G snv 4.0E-06; 0.83 0.020 1.000 2 2008 2009
dbSNP: rs35605815
rs35605815
2 0.925 0.040 1 55052407 frameshift variant -/T ins 0.010 1.000 1 2007 2007
dbSNP: rs4072032
rs4072032
2 1.000 0.040 17 64378896 intron variant G/A snv 0.40 0.010 1.000 1 2008 2008
dbSNP: rs4393158
rs4393158
2 1.000 0.040 1 209678552 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4646234
rs4646234
2 1.000 0.040 13 98684126 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs6066394
rs6066394
2 1.000 0.040 20 47581409 intron variant C/T snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs749780672
rs749780672
2 0.925 0.080 19 11113426 missense variant C/A;G snv 1.6E-05 0.010 1.000 1 1997 1997
dbSNP: rs776478288
rs776478288
2 0.925 0.080 6 46716518 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs777249279
rs777249279
2 0.925 0.080 2 21006422 missense variant G/A;T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 1997 1997
dbSNP: rs879254896
rs879254896
2 0.925 0.080 19 11113599 frameshift variant GC/A delins 0.010 1.000 1 1998 1998
dbSNP: rs377271627
rs377271627
2 0.925 0.080 19 11102769 stop gained C/G snv 4.0E-06 0.700 0
dbSNP: rs141502002
rs141502002
3 0.882 0.080 1 55058549 missense variant C/T snv 6.0E-04 2.8E-03 0.010 1.000 1 2005 2005
dbSNP: rs17222772
rs17222772
3 0.925 0.120 13 30737959 intron variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs17231896
rs17231896
3 0.925 0.120 16 56982180 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1746661
rs1746661
3 0.925 0.080 1 32869438 intron variant G/A;T snv 0.010 1.000 1 2015 2015