Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121909335
VCP
0.776 0.200 9 35065351 missense variant C/T snv 8.0E-06 2
rs121913619
MYH3
0.882 0.080 17 10650374 missense variant G/A;T snv 4.0E-06 1
rs121918075
TTR
0.752 0.280 18 31598632 missense variant A/G snv 1
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv 4
rs122458140
FHL1
0.925 0.120 X 136207825 missense variant G/C snv 1
rs122458141
FHL1
1.000 0.120 X 136208625 missense variant C/G snv 1
rs122458142
FHL1
1.000 X 136207827 missense variant C/T snv 1
rs122458143
FHL1
1.000 X 136207855 missense variant G/T snv 1
rs137852539
PGK1
1.000 0.080 X 78125344 missense variant A/C snv 1
rs137854430
TK2
1.000 16 66513795 missense variant A/T snv 1
rs137854521
ANO5
0.851 0.200 11 22221100 frameshift variant -/A delins 9
rs138058572
MIR324 ; ACADVL
1.000 0.200 17 7223993 missense variant G/A snv 4.0E-06 2.1E-05 2
rs139552940
COL6A2
21 46131981 missense variant G/A snv 5.9E-05 4.2E-05 1
rs149278319
DNAJB6
1.000 7 157367416 missense variant C/A;G;T snv 4.0E-06; 1.4E-03 1
rs150516929
CRYAB
0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 1
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs1555420508
LOC105370794 ; CAPN3
15 42387891 splice region variant G/A snv 3
rs1555606959
TCAP
1.000 0.120 17 39665391 frameshift variant -/G delins 2
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1557182317
EMD
0.925 0.160 X 154379790 frameshift variant -/T delins 3
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv 14
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs1815739
ACTN3
0.763 0.240 11 66560624 stop gained C/T snv 0.37 2
rs199474699
CYTB ; ND6 ; TRNP
MT 15990 non coding transcript exon variant C/T snv 1
rs199476140
COX1 ; ND2 ; TRNQ ; ND1
MT 4365 non coding transcript exon variant -/A delins 1