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: rs58898021
rs58898021
DES
3 0.925 0.160 2 219421385 missense variant G/C snv 0.010 1.000 1 2003 2003
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.020 1.000 2 2012 2019
dbSNP: rs121912476
rs121912476
2 1.000 12 52516824 missense variant C/T snv 1.2E-05 1.4E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs59115483
rs59115483
4 0.882 0.080 12 52519789 missense variant C/T snv 2.4E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs556450190
rs556450190
3 1.000 0.080 15 50997380 missense variant G/A snv 2.5E-05 1.7E-04 0.010 1.000 1 2015 2015
dbSNP: rs760021635
rs760021635
3 1.000 0.080 15 50958492 missense variant G/A snv 8.2E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs63751243
rs63751243
GRN
4 0.882 0.160 17 44349190 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs762040846
rs762040846
2 1.000 0.080 17 41586327 missense variant C/T snv 4.0E-06 0.010 1.000 1 2002 2002