Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs1555570093
MPDU1
0.807 0.280 17 7586699 missense variant G/A snv 12
rs1218912272
FLG-AS1 ; FLG
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 8
rs1569044747
IL2RB
0.882 0.120 22 37139219 stop gained G/A snv 5
rs147040026
COL7A1
0.882 0.120 3 48591738 missense variant C/G;T snv 4.0E-06; 1.6E-05 4
rs199766569
ALOX12B
0.925 0.080 17 8075687 missense variant T/C snv 1.9E-04 1.4E-04 2
rs370031870
ALOXE3
0.925 0.080 17 8115623 stop gained G/A;T snv 2.0E-05; 4.0E-06 2
rs200806519
PNPLA1
0.925 0.080 6 36291501 missense variant C/A;T snv 2.4E-05 4.1E-05 2
rs111033307
SLC26A4
0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 2
rs1553520468
SNHG31 ; ABCA12
0.925 0.080 2 214955362 splice acceptor variant C/G snv 2
rs121918719
TGM1
0.925 0.080 14 24261775 missense variant C/T snv 1.2E-05 7.0E-06 2
rs863223405
TGM1
0.925 0.080 14 24258324 missense variant A/G snv 2
rs780420901
ALOX12B
1.000 0.080 17 8073215 missense variant G/A;T snv 4.0E-06 1
rs118203937
CYP4F22
0.882 0.080 19 15540506 missense variant G/A;T snv 3.6E-05; 4.0E-06 1
rs28929485
GJB2
0.807 0.320 13 20189532 missense variant G/A;C snv 1
rs1057517836
TGM1
1.000 0.080 14 24261795 stop gained -/TACTCATACT delins 1