Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs113993993
SBDS
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 9
rs200635937
GPR161
0.925 0.040 1 168104855 missense variant A/T snv 2.9E-03 8.0E-04 3
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs188675529
CENPT ; THAP11
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 11
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs1801175
G6PC
0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04 4
rs201431517
MTFMT
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 17
rs201435914
DPRX
19 53636878 stop gained C/T snv 3.5E-04 3.6E-04 1
rs202160208
GMPPB
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 8
rs143814221
GHR
0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04 8
rs138249161
POLR3B
0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 8
rs202070666
PLXNA3
X 154460239 missense variant G/A snv 2.2E-04 6.5E-04 1
rs376253982
KCND1
X 48966313 splice region variant C/A snv 2.0E-04 2.1E-04 1
rs531047390
NRXN3
1.000 0.120 14 78968349 splice region variant A/G snv 2.0E-04 2.1E-05 2
rs767539150
ZFC3H1
12 71656953 missense variant C/T snv 1.8E-04 1.7E-04 1
rs120074160
SBDS
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 6
rs201430951
NUBPL
0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 7
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs141844660
USP45 ; TSTD3
6 99443648 stop gained C/A snv 1.3E-04 1.2E-04 1
rs765498367
LOC105373312 ; AMMECR1
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 6
rs766464011
MIR4758 ; LAMA5
20 62333128 missense variant G/T snv 1.1E-04 5.6E-05 1
rs370433088
LAMA5
20 62322314 missense variant C/T snv 1.0E-04 1.0E-04 1
rs148723879
HKDC1
10 69246212 missense variant C/T snv 9.9E-05 1.2E-04 1
rs397509426
GMPPB
0.882 0.080 3 49723632 missense variant G/A snv 8.0E-05 7.0E-06 7