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: rs2583988
rs2583988
2 0.925 0.080 4 89839677 non coding transcript exon variant C/A;T snv 0.720 1.000 3 2007 2012
dbSNP: rs1372519
rs1372519
1 1.000 0.040 4 89836158 5 prime UTR variant A/G snv 0.77 0.700 1.000 1 2011 2011
dbSNP: rs1372520
rs1372520
1 1.000 0.040 4 89836354 intron variant T/C snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.100 0.957 70 1998 2019
dbSNP: rs1330229174
rs1330229174
2 0.925 0.080 4 89835568 missense variant T/C snv 4.0E-06 0.020 1.000 2 2017 2019
dbSNP: rs2301134
rs2301134
1 1.000 0.040 4 89837794 intron variant A/G snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs2301135
rs2301135
1 1.000 0.040 4 89837238 5 prime UTR variant G/C snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs2619363
rs2619363
1 1.000 0.040 4 89837896 intron variant G/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs2619364
rs2619364
1 1.000 0.040 4 89838736 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs3756063
rs3756063
2 0.925 0.080 4 89836243 intron variant G/C snv 0.58 0.010 1.000 1 2016 2016