Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 23
rs863225422
RNU4ATAC ; CLASP1 ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs1380822792
NAA15
0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 7
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs1554641549
SCRIB ; PUF60
0.925 0.080 8 143816613 frameshift variant TGGCCTTATGA/- delins 3
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1085307139
SCRIB ; PUF60
0.925 0.040 8 143817380 frameshift variant -/C delins 5
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9
rs1085307132
SCRIB ; PUF60
0.882 0.160 8 143817668 frameshift variant -/TTTT delins 5
rs1554643142
PUF60
0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins 4
rs1218912272
FLG-AS1 ; FLG
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 8
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87