Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs864621974
TRPS1
1.000 0.080 8 115604276 stop gained G/A snv 1
rs752405769
TRPS1
1.000 0.080 8 115415107 intron variant A/C;G snv 4.7E-06 1
rs751565386
TRPS1
0.925 0.160 8 115418392 stop gained G/A;T snv 8.0E-06 2
rs368166434
TRPS1
0.851 0.200 8 115603883 stop gained G/A;C snv 2
rs28939070
TRPS1
0.925 0.160 8 115415014 missense variant C/T snv 2
rs28939069
TRPS1
0.925 0.160 8 115415015 missense variant G/A snv 2
rs1563714392
TRPS1
1.000 0.080 8 115415008 frameshift variant -/AAGGCGCT delins 1
rs1563638577
TRPS1
0.925 0.160 8 115604951 frameshift variant -/GCAA delins 2
rs1563637033
TRPS1
0.925 0.160 8 115604264 frameshift variant ATGGAGCTGTT/- delins 2
rs1563623987
TRPS1
0.925 0.160 8 115587133 stop gained A/C snv 2
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins 6
rs1554617581
TRPS1
1.000 0.080 8 115418422 missense variant T/A snv 1
rs1554617580
TRPS1
1.000 0.080 8 115418421 missense variant T/C snv 1
rs1554617573
TRPS1
1.000 0.080 8 115418397 missense variant A/G snv 1
rs1554617567
TRPS1
1.000 0.080 8 115418369 frameshift variant -/G ins 1
rs1554617561
TRPS1
1.000 0.080 8 115418352 missense variant C/A snv 1
rs1554617549
TRPS1
1.000 0.080 8 115418329 splice donor variant C/A snv 1
rs1554617078
TRPS1
1.000 0.080 8 115415048 frameshift variant -/GTTTTGTT delins 1
rs1554617011
TRPS1
1.000 0.080 8 115414924 frameshift variant CTCT/- delins 1
rs1554616971
TRPS1
1.000 0.080 8 115414831 frameshift variant C/- del 1
rs1554616950
TRPS1
1.000 0.080 8 115414768 frameshift variant G/- delins 1
rs1554616802
TRPS1
1.000 0.080 8 115414484 frameshift variant T/- del 1
rs1554596430
TRPS1
1.000 0.080 8 115604954 frameshift variant -/ATCTG delins 1
rs1554596418
TRPS1
1.000 0.080 8 115604926 missense variant C/A snv 1