Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2070744
NOS3
0.608 0.680 7 150992991 intron variant C/T snv 0.70 1
rs267607499
DES
0.851 0.160 2 219418809 missense variant A/G;T snv 1
rs37369
AGXT2
0.807 0.120 5 35037010 missense variant C/T snv 0.21 0.25 1
rs398122917
CLIC2
0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04 1
rs587782951
JPH2
0.807 0.080 20 44160305 missense variant G/T snv 1
rs991104525
ARSB
0.882 0.160 5 78969051 missense variant G/A snv 1.2E-05 7.7E-05 1
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins 4
rs1559279177
HJV
0.851 0.160 1 146018661 frameshift variant G/- del 5