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: rs63750875
rs63750875
10 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
1 1.000 0.080 2 47476442 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs17217772
rs17217772
9 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
1 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