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: rs1042034
rs1042034
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.010 1.000 1 2004 2004
dbSNP: rs1135402763
rs1135402763
1 1.000 0.080 2 21032540 missense variant T/C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs1367117
rs1367117
8 1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2004 2004
dbSNP: rs693
rs693
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.010 1.000 1 2017 2017
dbSNP: rs749903604
rs749903604
3 0.882 0.080 2 21042450 missense variant G/A snv 8.0E-06 0.010 1.000 1 2006 2006