Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs1555873985
KCNQ2 ; KCNQ2-AS1
0.925 20 63445322 missense variant G/A;C snv 4
rs80338677
MAN2B1
0.925 0.080 19 12655693 splice donor variant C/G snv 9.3E-05 7.7E-05 4
rs80358252
NPC1
0.925 0.160 18 23561461 missense variant C/T snv 1.4E-05 4
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 4
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv 4
rs746882521
PIGN
0.925 18 62143337 missense variant A/C snv 3.0E-05 4.9E-05 4
rs137852695
PPT1
0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 4
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv 4
rs397518483
RARB
0.851 0.120 3 25596428 missense variant C/A;T snv 4
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs1057521083
SATB2
0.925 0.200 2 199348709 missense variant G/A snv 4
rs104894635
SGSH
0.882 0.120 17 80213815 missense variant C/A;T snv 4.4E-06; 3.3E-04 4
rs148234606
SLC52A2
0.925 8 144360604 missense variant T/C snv 7.0E-05 7.7E-05 4
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs796053361
STXBP1
0.925 0.040 9 127668160 missense variant G/A;T snv 4
rs886041185
VPS13B
0.925 0.320 8 99835295 frameshift variant -/A delins 4
rs779357448
ADAR
0.925 0.080 1 154590246 frameshift variant CT/- del 8.0E-06 1.4E-05 3
rs142684762
ADGRG1
1.000 16 57659478 missense variant A/G snv 3
rs1554236054
ARID1B
1.000 6 157201481 frameshift variant -/G delins 3
rs1555912285
ASXL1
1.000 20 32435475 frameshift variant TGTTGAGC/CAA delins 3
rs1156904586
ATP8A2
1.000 13 25577115 frameshift variant -/T delins 1.4E-05 3
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv 3
rs397517076
CBL
0.925 0.160 11 119278165 splice acceptor variant G/C;T snv 3
rs886041166
CHD7
1.000 8 60742366 stop gained C/T snv 3