Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28939069
rs28939069
TRPS1
2 0.925 0.160 8 115415015 missense variant G/A snv 0.800 1.000 2 2004 2015
dbSNP: rs28939070
rs28939070
TRPS1
2 0.925 0.160 8 115415014 missense variant C/T snv 0.800 1.000 2 2004 2015
dbSNP: rs886040971
rs886040971
TRPS1
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 1.000 5 2001 2017
dbSNP: rs1057518972
rs1057518972
TRPS1
7 0.827 0.200 8 115418359 missense variant C/T snv 0.700 1.000 4 2008 2017
dbSNP: rs121908435
rs121908435
TRPS1
2 0.925 0.160 8 115418391 missense variant C/G;T snv 0.700 1.000 2 2015 2017
dbSNP: rs751565386
rs751565386
TRPS1
2 0.925 0.160 8 115418392 stop gained G/A;T snv 8.0E-06 0.700 1.000 2 2015 2017
dbSNP: rs121908431
rs121908431
TRPS1
1 1.000 0.080 8 115604099 stop gained G/A;C snv 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs121908432
rs121908432
TRPS1
1 1.000 0.080 8 115587144 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs121908436
rs121908436
TRPS1
2 0.925 0.160 8 115418358 missense variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1554592981
rs1554592981
TRPS1
1 1.000 0.080 8 115587306 frameshift variant -/G delins 0.700 1.000 1 2015 2015
dbSNP: rs1554592995
rs1554592995
TRPS1
1 1.000 0.080 8 115587345 frameshift variant CT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1554593099
rs1554593099
TRPS1
1 1.000 0.080 8 115587521 frameshift variant CA/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1554595857
rs1554595857
TRPS1
1 1.000 0.080 8 115603875 stop gained G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1554595930
rs1554595930
TRPS1
1 1.000 0.080 8 115604087 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1554596193
rs1554596193
TRPS1
1 1.000 0.080 8 115604509 frameshift variant T/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1554596300
rs1554596300
TRPS1
1 1.000 0.080 8 115604737 frameshift variant -/G delins 0.700 1.000 1 2015 2015
dbSNP: rs1554596328
rs1554596328
TRPS1
1 1.000 0.080 8 115604792 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1554596391
rs1554596391
TRPS1
1 1.000 0.080 8 115604864 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1554596393
rs1554596393
TRPS1
1 1.000 0.080 8 115604876 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1554596430
rs1554596430
TRPS1
1 1.000 0.080 8 115604954 frameshift variant -/ATCTG delins 0.700 1.000 1 2015 2015
dbSNP: rs1554616802
rs1554616802
TRPS1
1 1.000 0.080 8 115414484 frameshift variant T/- del 0.700 1.000 1 2015 2015
dbSNP: rs1554616950
rs1554616950
TRPS1
1 1.000 0.080 8 115414768 frameshift variant G/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1554616971
rs1554616971
TRPS1
1 1.000 0.080 8 115414831 frameshift variant C/- del 0.700 1.000 1 2015 2015
dbSNP: rs1554617011
rs1554617011
TRPS1
1 1.000 0.080 8 115414924 frameshift variant CTCT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1554617078
rs1554617078
TRPS1
1 1.000 0.080 8 115415048 frameshift variant -/GTTTTGTT delins 0.700 1.000 1 2015 2015