Source: ALL
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: rs796052407
rs796052407
CTSD
1 1.000 0.120 11 1759569 missense variant G/A snv 4.0E-06 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs1060502179
rs1060502179
TPP1
1 1.000 0.120 11 6618823 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs119455957
rs119455957
TPP1
3 0.882 0.120 11 6616696 missense variant C/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs121908199
rs121908199
TPP1
2 0.925 0.120 11 6615542 missense variant C/T snv 0.700 0
dbSNP: rs121908200
rs121908200
TPP1
2 0.925 0.120 11 6615442 missense variant C/G snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs1554902216
rs1554902216
TPP1
2 0.925 0.120 11 6618820 frameshift variant AG/- delins 0.700 0
dbSNP: rs1564855725
rs1564855725
TPP1
5 0.882 0.160 11 6617621 splice region variant C/T snv 0.700 0
dbSNP: rs1564855860
rs1564855860
TPP1
1 1.000 0.120 11 6617769 stop gained G/C snv 0.700 0
dbSNP: rs750428882
rs750428882
TPP1
2 1.000 0.120 11 6616375 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs756564767
rs756564767
TPP1
3 0.882 0.120 11 6617627 stop gained G/A snv 6.4E-05 4.2E-05 0.700 0
dbSNP: rs763162812
rs763162812
TPP1
2 0.925 0.120 11 6616720 missense variant T/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs765380155
rs765380155
TPP1
2 0.925 0.120 11 6616374 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs786204753
rs786204753
TPP1
2 0.925 0.120 11 6615217 stop gained C/T snv 0.700 0
dbSNP: rs386833966
rs386833966
CLN5 ; FBXL3
2 0.925 0.120 13 77000824 frameshift variant T/- delins 0.700 1.000 6 1998 2013
dbSNP: rs386833969
rs386833969
CLN5 ; FBXL3
2 0.925 0.120 13 77000918 frameshift variant AT/- delins 0.700 1.000 5 2002 2013
dbSNP: rs386833967
rs386833967
CLN5 ; FBXL3
2 0.925 0.120 13 77000845 frameshift variant AACA/- delins 2.8E-05 0.700 1.000 3 2008 2012
dbSNP: rs386833980
rs386833980
CLN5 ; FBXL3
2 0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 3 2009 2015
dbSNP: rs786204644
rs786204644
CLN5 ; FBXL3
2 0.925 0.120 13 77000667 frameshift variant AT/- delins 0.700 1.000 2 1998 2012
dbSNP: rs386833979
rs386833979
CLN5 ; FBXL3
2 0.925 0.120 13 76996083 frameshift variant -/C delins 0.700 1.000 1 2012 2012
dbSNP: rs546989392
rs546989392
CLN5 ; FBXL3
2 0.925 0.120 13 76996010 stop gained C/T snv 2.0E-05 7.7E-05 0.700 1.000 1 2013 2013
dbSNP: rs104894385
rs104894385
CLN5 ; FBXL3
2 0.925 0.120 13 76992176 stop gained G/A;T snv 2.7E-05; 3.1E-05 0.700 0
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
2 0.925 0.120 13 76995077 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs1555273604
rs1555273604
CLN5 ; FBXL3
1 1.000 0.120 13 76992207 frameshift variant -/ATCCGGGCTGG delins 0.700 0
dbSNP: rs1555273881
rs1555273881
CLN5 ; FBXL3
1 1.000 0.120 13 76995075 frameshift variant C/- delins 0.700 0
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
2 0.925 0.120 13 77000580 missense variant G/A snv 8.0E-06 0.700 0