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: rs121912476
rs121912476
3 0.923 0.071 12 52516824 missense variant C/T snp 1.2E-05 3.2E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs556450190
rs556450190
3 1.000 0.071 15 50997380 missense variant G/A snp 2.5E-05 1.3E-04 0.010 1.000 1 2016 2016
dbSNP: rs58898021
rs58898021
DES
3 0.923 0.143 2 219421385 missense variant G/C snp 0.010 1.000 1 2003 2003
dbSNP: rs59115483
rs59115483
5 0.846 0.071 12 52519789 missense variant C/T snp 2.4E-05 3.2E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs63751243
rs63751243
GRN
5 0.846 0.143 17 44349190 missense variant C/A,T snp 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs760021635
rs760021635
3 1.000 0.071 15 50958492 missense variant G/A snp 8.2E-06 0.010 1.000 1 2016 2016
dbSNP: rs762040846
rs762040846
2 1.000 0.071 17 41586327 C/T snp 4.0E-06 0.010 < 0.001 1 2002 2002