Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs963172852
PMPCA
9 136418848 missense variant C/T snv 8.0E-06 2.1E-05 2
rs946006593
GATAD2B
1 153812108 stop gained G/A;C snv 2
rs917027829
CSF1R
1.000 5 150069942 stop gained G/A;T snv 4.0E-06 3
rs899735028
FLVCR1-DT ; FLVCR1
1 212858455 start lost G/T snv 1.4E-05 2
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv 4
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv 2
rs886041185
VPS13B
0.925 0.320 8 99835295 frameshift variant -/A delins 4
rs886041166
CHD7
1.000 8 60742366 stop gained C/T snv 3
rs886039494
GNAO1
0.925 16 56336762 missense variant C/G;T snv 2
rs879253888
KIF1A
0.851 0.120 2 240783777 missense variant G/A snv 5
rs878854991
SPAST
0.882 0.080 2 32141906 missense variant G/A snv 2
rs875989786
ZBTB18
1.000 1 244054957 stop gained C/T snv 2
rs869320802
CTBP1 ; CTBP1-AS
1.000 4 1213028 missense variant G/A snv 2
rs869312966
SCN8A
0.827 0.120 12 51806345 missense variant G/T snv 1
rs869312914
ZFYVE26
1.000 0.120 14 67752520 stop gained G/A snv 2
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 4
rs864622269
ATL1
0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 2
rs864309483
ADCY5
0.851 0.080 3 123352464 missense variant G/A snv 9
rs863224148
PDHA1
1.000 0.040 X 19350033 missense variant C/T snv 2
rs80359541
BRCA2
0.882 0.200 13 32340183 frameshift variant C/- del 8.0E-06 6
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 4
rs80358252
NPC1
0.925 0.160 18 23561461 missense variant C/T snv 1.4E-05 4
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv 4
rs80338933
SH3TC2
0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 8
rs80338708
PMM2 ; LOC100130283
1.000 0.080 16 8847794 missense variant C/G;T snv 1.3E-04; 4.4E-05 3