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: rs1057517836
rs1057517836
TGM1
1 1.000 0.080 14 24261795 stop gained -/TACTCATACT delins 0.700 0
dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
8 0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 0.700 0
dbSNP: rs121918719
rs121918719
TGM1
2 0.925 0.080 14 24261775 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs147040026
rs147040026
COL7A1
4 0.882 0.120 3 48591738 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1553520468
rs1553520468
ABCA12 ; SNHG31
2 0.925 0.080 2 214955362 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1555570093
rs1555570093
MPDU1
12 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
dbSNP: rs1569044747
rs1569044747
IL2RB
5 0.882 0.120 22 37139219 stop gained G/A snv 0.700 0
dbSNP: rs199766569
rs199766569
ALOX12B
2 0.925 0.080 17 8075687 missense variant T/C snv 1.9E-04 1.4E-04 0.700 0
dbSNP: rs200806519
rs200806519
PNPLA1
2 0.925 0.080 6 36291501 missense variant C/A;T snv 2.4E-05 4.1E-05 0.700 0
dbSNP: rs370031870
rs370031870
ALOXE3
2 0.925 0.080 17 8115623 stop gained G/A;T snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
26 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs780420901
rs780420901
ALOX12B
1 1.000 0.080 17 8073215 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs863223405
rs863223405
TGM1
2 0.925 0.080 14 24258324 missense variant A/G snv 0.700 0
dbSNP: rs111033307
rs111033307
SLC26A4
6 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.010 1.000 1 2019 2019
dbSNP: rs118203937
rs118203937
CYP4F22
3 0.882 0.080 19 15540506 missense variant G/A;T snv 3.6E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1373855924
rs1373855924
VPS33B ; LOC105370970
4 0.851 0.240 15 91009812 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1457403673
rs1457403673
KRT14
4 0.882 0.120 17 41586785 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs28929485
rs28929485
GJB2
7 0.807 0.320 13 20189532 missense variant G/A;C snv 0.010 1.000 1 2017 2017