Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918364
SRPX2
0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 1
rs5030849
PAH
0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 1
rs1562928193
KMT2E
1.000 0.200 7 105102045 frameshift variant -/TA delins 1
rs1555050158
GRIA4
0.925 0.200 11 105926808 missense variant A/T snv 1
rs1555050165
GRIA4
0.925 0.200 11 105926814 missense variant A/G snv 2
rs1555050171
GRIA4
0.925 0.200 11 105926821 missense variant C/G snv 1
rs1555050174
GRIA4
0.925 0.200 11 105926824 missense variant C/T snv 1
rs765556214
GRIA4
1.000 0.200 11 105933765 missense variant G/A;C snv 1.6E-05 4.9E-05 1
rs121434613
PAK3
0.882 0.240 X 111194402 missense variant C/A snv 1
rs121434614
PAK3
0.925 0.200 X 111196570 missense variant G/C snv 1
rs869025287
MED13L
0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 2
rs122468181
UPF3B
0.925 0.200 X 119837771 stop gained G/A;T snv 1
rs878853152
CUL4B
1.000 0.200 X 120547154 frameshift variant TG/- delins 1
rs796053290
SLC9A6
0.925 0.280 X 135998095 splice region variant TTTTA/- delins 2
rs878853143
GRIN1
0.925 0.200 9 137162209 missense variant C/G;T snv 1
rs587776690
ATR
0.882 0.280 3 142556439 synonymous variant T/C snv 1
rs199469705
TECR
0.925 0.200 19 14564841 missense variant C/T snv 1
rs397515486
HCFC1
0.925 0.200 X 153964702 missense variant G/A snv 2
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 14
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 6
rs61748420
MECP2
0.851 0.200 X 154031329 missense variant G/A;T snv 2
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
rs61748392
MECP2
0.925 0.200 X 154031418 missense variant T/C snv 1
rs28934904
MECP2
0.776 0.200 X 154031431 missense variant G/A;C;T snv 5
rs878853142
RAI1
1.000 0.200 17 17795278 frameshift variant GGCAT/- delins 1