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
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv 7
rs1057518972
TRPS1
0.827 0.200 8 115418359 missense variant C/T snv 6
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins 6
rs1554596397
TRPS1
1.000 8 115604881 stop gained A/C snv 2
rs751565386
TRPS1
0.925 0.160 8 115418392 stop gained G/A;T snv 8.0E-06 2
rs121908435
TRPS1
0.925 0.160 8 115418391 missense variant C/G;T snv 2
rs1554596063
TRPS1
0.925 0.160 8 115604319 frameshift variant GC/- del 2
rs1563623987
TRPS1
0.925 0.160 8 115587133 stop gained A/C snv 2
rs28939070
TRPS1
0.925 0.160 8 115415014 missense variant C/T snv 2
rs1563637033
TRPS1
0.925 0.160 8 115604264 frameshift variant ATGGAGCTGTT/- delins 2
rs368166434
TRPS1
0.851 0.200 8 115603883 stop gained G/A;C snv 2
rs28939069
TRPS1
0.925 0.160 8 115415015 missense variant G/A snv 2
rs121908436
TRPS1
0.925 0.160 8 115418358 missense variant G/A snv 2
rs1554593085
TRPS1
0.925 0.160 8 115587497 frameshift variant GATGTCCTGT/- delins 2
rs1563638577
TRPS1
0.925 0.160 8 115604951 frameshift variant -/GCAA delins 2
rs1554596193
TRPS1
1.000 0.080 8 115604509 frameshift variant T/- delins 1
rs1554596391
TRPS1
1.000 0.080 8 115604864 stop gained G/A snv 1
rs1554596300
TRPS1
1.000 0.080 8 115604737 frameshift variant -/G delins 1
rs1554596430
TRPS1
1.000 0.080 8 115604954 frameshift variant -/ATCTG delins 1
rs1554595930
TRPS1
1.000 0.080 8 115604087 stop gained G/A snv 1
rs1554592981
TRPS1
1.000 0.080 8 115587306 frameshift variant -/G delins 1
rs1554596328
TRPS1
1.000 0.080 8 115604792 frameshift variant -/A delins 1
rs1563714392
TRPS1
1.000 0.080 8 115415008 frameshift variant -/AAGGCGCT delins 1
rs864621974
TRPS1
1.000 0.080 8 115604276 stop gained G/A snv 1