Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 10
rs776780438
SLC27A5 ; LOC112268251 ; ZNF446
19 58480401 stop gained G/A snv 8.1E-06 4.9E-05 1
rs375633720
CPZ ; GPR78
4 8601494 missense variant C/T snv 2.8E-05 4.2E-05 1
rs782515431
PLXNA3
X 154464026 missense variant G/C snv 1.1E-05 3.8E-05 1
rs778037798
PDZRN3
3 73388079 non coding transcript exon variant A/G snv 4.9E-05 3.5E-05 1
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs773956500
LAMA5
20 62322722 missense variant T/C snv 4.3E-05 2.9E-05 1
rs1230432769
OTUD5 ; KCND1
X 48962751 missense variant G/A snv 2.9E-05 1
rs998297769
GABRE
X 151962587 stop gained G/T snv 1.1E-05 2.8E-05 1
rs765498367
LOC105373312 ; AMMECR1
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 6
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 7
rs370270828
BRF1
0.882 0.160 14 105241292 missense variant G/A snv 8.0E-06 2.8E-05 7
rs748323629
UBR4
1 19151825 missense variant T/C snv 8.0E-06 2.8E-05 1
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs373957300
BRF1
0.882 0.160 14 105228832 missense variant G/A snv 1.6E-05 2.8E-05 7
rs1259852690
FBRS
16 30669598 missense variant C/G snv 4.2E-06 2.8E-05 1
rs984649575
CLIP1
12 122377616 stop gained G/A snv 2.1E-05 1
rs200034765
HKDC1
10 69247416 missense variant C/T snv 1.2E-05 2.1E-05 1
rs760297650
MED24
17 40022789 missense variant C/T snv 2.0E-05 2.1E-05 1
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs531047390
NRXN3
1.000 0.120 14 78968349 splice region variant A/G snv 2.0E-04 2.1E-05 2
rs782144677
LINC00624 ; CHD1L
1 147285398 frameshift variant A/- del 2.8E-05 2.1E-05 1
rs201805961
PYGB
20 25292483 missense variant A/G snv 2.4E-05 2.1E-05 1
rs775141057
LOC100287944 ; POLR3B
0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05 6
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 10