Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs150681845
INTU
1.000 0.080 4 127687772 missense variant G/A snv 2.6E-03 1.8E-03 2
rs1057518781
MCOLN1
0.925 0.120 19 7527961 splice donor variant G/A;C snv 7
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs550423482
PNPO
0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 5
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs869025317
UNC80
0.925 0.160 2 209959707 missense variant G/C snv 4
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs1057518817
NPR2
1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del 4
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins 5
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv 13
rs869025319
UNC80
0.925 0.160 2 209967586 stop gained T/A snv 4
rs748379243
ERCC8
0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 6
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 19
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9