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: rs387906841
rs387906841
CDSN ; PSORS1C1
1 1.000 0.080 6 31117440 stop gained T/A snv 6.1E-06 4.2E-05 0.700 0
dbSNP: rs606231274
rs606231274
CDSN ; PSORS1C1
1 1.000 0.080 6 31117447 frameshift variant -/CAGG delins 3.1E-05 7.0E-06 0.700 0
dbSNP: rs606231275
rs606231275
CDSN ; PSORS1C1
1 1.000 0.080 6 31117191 stop gained C/A snv 0.700 0
dbSNP: rs606231277
rs606231277
TGM5
2 0.925 0.080 15 43253550 frameshift variant G/- del 1.2E-05 0.700 0
dbSNP: rs672601343
rs672601343
CDSN ; PSORS1C1
1 1.000 0.080 6 31116869 frameshift variant C/- delins 0.700 0
dbSNP: rs149660944
rs149660944
CHST8
5 0.851 0.200 19 33772017 missense variant C/A;T snv 6.5E-05; 4.0E-03 0.020 1.000 2 2012 2017
dbSNP: rs117026326
rs117026326
GTF2I ; LOC101926943
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs13072846
rs13072846
RBMS3
3 0.882 0.200 3 29402923 intron variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs13079920
rs13079920
RBMS3
3 0.882 0.200 3 29404440 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3804100
rs3804100
TLR2
36 0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs5743705
rs5743705
TLR2
3 0.882 0.200 4 153705028 synonymous variant T/C snv 1.4E-02 5.1E-03 0.010 1.000 1 2019 2019