Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs121908430
TRPS1
1.000 0.080 8 115604916 stop gained G/T snv 1
rs121908431
TRPS1
1.000 0.080 8 115604099 stop gained G/A;C snv 8.0E-06 1
rs121908432
TRPS1
1.000 0.080 8 115587144 stop gained G/A snv 1
rs121908433
TRPS1
1.000 0.160 8 115418413 missense variant T/G snv 1
rs121908434
TRPS1
1.000 0.080 8 115414593 stop gained G/C snv 1
rs121908435
TRPS1
0.925 0.160 8 115418391 missense variant C/G;T snv 2
rs121908436
TRPS1
0.925 0.160 8 115418358 missense variant G/A snv 2
rs1554592981
TRPS1
1.000 0.080 8 115587306 frameshift variant -/G delins 1
rs1554592995
TRPS1
1.000 0.080 8 115587345 frameshift variant CT/- delins 1
rs1554593085
TRPS1
0.925 0.160 8 115587497 frameshift variant GATGTCCTGT/- delins 2
rs1554593099
TRPS1
1.000 0.080 8 115587521 frameshift variant CA/- delins 1
rs1554595857
TRPS1
1.000 0.080 8 115603875 stop gained G/T snv 1
rs1554595930
TRPS1
1.000 0.080 8 115604087 stop gained G/A snv 1
rs1554596063
TRPS1
0.925 0.160 8 115604319 frameshift variant GC/- del 2
rs1554596193
TRPS1
1.000 0.080 8 115604509 frameshift variant T/- delins 1
rs1554596300
TRPS1
1.000 0.080 8 115604737 frameshift variant -/G delins 1
rs1554596328
TRPS1
1.000 0.080 8 115604792 frameshift variant -/A delins 1
rs1554596391
TRPS1
1.000 0.080 8 115604864 stop gained G/A snv 1
rs1554596393
TRPS1
1.000 0.080 8 115604876 stop gained G/A snv 1
rs1554596397
TRPS1
1.000 8 115604881 stop gained A/C snv 2
rs1554596418
TRPS1
1.000 0.080 8 115604926 missense variant C/A snv 1
rs1554596430
TRPS1
1.000 0.080 8 115604954 frameshift variant -/ATCTG delins 1
rs1554616802
TRPS1
1.000 0.080 8 115414484 frameshift variant T/- del 1