Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins 13
rs1561898352
CUL7 ; KLC4
0.882 0.200 6 43052582 frameshift variant -/A delins 8
rs1553403917
ALMS1
0.807 0.320 2 73451171 frameshift variant -/A delins 7
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs886041287
TTN ; TTN-AS1
0.882 0.160 2 178535594 frameshift variant -/GT delins 8
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs1085308052
PTEN
0.851 0.160 10 87952144 frameshift variant -/T delins 5
rs1085307132
SCRIB ; PUF60
0.882 0.160 8 143817668 frameshift variant -/TTTT delins 5
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs772887102
RARS2
0.807 0.200 6 87548623 missense variant A/C snv 2.2E-04 2.8E-05 9
rs1567564042
MYH3
0.827 0.120 17 10654924 stop gained A/C snv 6
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs1085308004
FBN1
0.807 0.240 15 48425420 missense variant A/G snv 9
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 1
rs727503054
FBN1
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 15
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs869320624
EMC1-AS1 ; EMC1
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del 7
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1555216163
MYF5
0.851 0.160 12 80717084 frameshift variant AGTTCTCACC/- delins 4
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv 8