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: rs886037945
rs886037945
6 0.827 0.160 19 13303584 missense variant C/T snv 0.800 1.000 3 2013 2016
dbSNP: rs886037944
rs886037944
1 1.000 19 13455205 missense variant C/G snv 0.800 1.000 2 2016 2016
dbSNP: rs886037946
rs886037946
1 1.000 19 13257421 missense variant C/A snv 0.800 1.000 2 2016 2016
dbSNP: rs121908212
rs121908212
14 0.732 0.160 19 13303877 missense variant G/A snv 0.700 1.000 8 1996 2017
dbSNP: rs1568457080
rs1568457080
2 0.925 0.120 19 13245181 splice donor variant C/A snv 0.700 1.000 5 1999 2016
dbSNP: rs121908247
rs121908247
5 0.851 0.160 19 13235693 missense variant C/T snv 0.700 1.000 2 2006 2017
dbSNP: rs1568473233
rs1568473233
2 0.925 0.120 19 13262790 stop gained G/A snv 0.700 1.000 2 2012 2012
dbSNP: rs1555737113
rs1555737113
2 0.925 0.120 19 13231850 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1568440440
rs1568440440
3 0.925 0.120 19 13228767 stop gained GT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1057520918
rs1057520918
11 0.790 0.160 19 13262780 missense variant C/T snv 0.700 0
dbSNP: rs1064794261
rs1064794261
1 1.000 19 13231717 missense variant G/A snv 0.700 0
dbSNP: rs121909324
rs121909324
4 0.851 0.160 19 13255217 stop gained G/A snv 0.700 0
dbSNP: rs1272886269
rs1272886269
2 0.925 0.120 19 13335805 splice donor variant C/T snv 4.2E-06 0.700 0
dbSNP: rs1555743942
rs1555743942
2 0.925 0.120 19 13257514 stop gained G/A snv 0.700 0
dbSNP: rs1555755909
rs1555755909
2 0.925 0.120 19 13298704 frameshift variant GCTCCGCCTTGTCCTCCGGACCCTCC/- delins 0.700 0
dbSNP: rs1555756130
rs1555756130
2 0.925 0.120 19 13298878 stop gained C/A snv 0.700 0
dbSNP: rs1555756461
rs1555756461
2 0.925 0.120 19 13299314 frameshift variant CAC/GT delins 0.700 0
dbSNP: rs1555756737
rs1555756737
2 0.925 0.120 19 13300638 stop gained C/A snv 0.700 0
dbSNP: rs1555757432
rs1555757432
1 1.000 19 13303574 missense variant T/G snv 0.700 0
dbSNP: rs1555757523
rs1555757523
2 0.925 0.120 19 13303832 frameshift variant T/- del 0.700 0
dbSNP: rs1555759066
rs1555759066
2 0.925 0.120 19 13308496 stop gained C/T snv 0.700 0
dbSNP: rs1555762855
rs1555762855
2 0.925 0.120 19 13317146 frameshift variant AACAATAGCAACACACAGCGTG/- delins 0.700 0
dbSNP: rs1555762908
rs1555762908
2 0.925 0.120 19 13317228 frameshift variant C/- del 0.700 0
dbSNP: rs1568470104
rs1568470104
2 0.925 0.120 19 13259661 stop gained G/A snv 0.700 0
dbSNP: rs1568528144
rs1568528144
2 0.925 0.120 19 13317198 stop gained C/T snv 0.700 0