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: rs587779973
rs587779973
1 1.000 0.080 2 47410334 missense variant G/A snv 1.6E-05 3.5E-05 0.700 1.000 4 1998 2005
dbSNP: rs63749907
rs63749907
1 1.000 0.080 2 47403229 missense variant G/A;T snv 1.4E-05 0.700 1.000 4 1998 2005
dbSNP: rs63749982
rs63749982
2 1.000 0.080 2 47475121 missense variant A/G snv 4.0E-06 0.700 1.000 4 1998 2005
dbSNP: rs63750006
rs63750006
3 0.882 0.160 2 47429920 stop gained C/A;G;T snv 5.5E-04; 4.0E-06 0.700 1.000 4 1998 2005
dbSNP: rs63750492
rs63750492
2 0.925 0.160 2 47466663 missense variant G/T snv 0.700 1.000 4 1998 2005
dbSNP: rs63750716
rs63750716
2 0.925 0.160 2 47410232 missense variant A/G snv 4.7E-04 1.3E-04 0.700 1.000 4 1998 2005
dbSNP: rs1114167806
rs1114167806
7 0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 0.700 0
dbSNP: rs17224367
rs17224367
3 0.882 0.160 2 47429833 missense variant C/G;T snv 1.5E-03 0.700 0
dbSNP: rs63749879
rs63749879
1 1.000 0.080 2 47416377 missense variant G/A snv 0.700 0
dbSNP: rs63751108
rs63751108
7 0.827 0.240 2 47429881 stop gained C/T snv 0.700 0
dbSNP: rs63751260
rs63751260
2 1.000 0.080 2 47403309 missense variant G/A snv 8.8E-06 0.700 0
dbSNP: rs63750875
rs63750875
15 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.040 1.000 4 2004 2011
dbSNP: rs1064795747
rs1064795747
4 0.925 0.080 2 47412433 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1114167857
rs1114167857
2 1.000 0.080 2 47476442 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs17217772
rs17217772
10 0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 0.010 1.000 1 2012 2012
dbSNP: rs374399939
rs374399939
1 1.000 0.080 2 47478357 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs63749984
rs63749984
2 0.925 0.160 2 47410340 stop gained G/C;T snv 1.6E-05 0.010 1.000 1 2004 2004
dbSNP: rs780178752
rs780178752
2 0.925 0.080 2 47403350 synonymous variant C/T snv 4.3E-06 1.4E-05 0.010 1.000 1 2007 2007