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
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs142110773
FIGNL1 ; DDC
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 13
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 9
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 9
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 8
rs1131692245
NPHS1
0.925 0.160 19 35844109 missense variant C/T snv 7
rs370244148
WNT2B
0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05 6
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 2
rs1555909961
TMPRSS15
1.000 0.080 21 18398320 frameshift variant AGTGC/- del 2
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 1
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 1
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 1
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 1
rs601338
FUT2 ; LOC105447645
0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 1
rs121918081
TTR
0.925 0.200 18 31595124 missense variant A/G snv 1