Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518972
rs1057518972
TRPS1
0.827 0.200 8 115418359 missense variant C/T snv
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.800 1.000 3 2008 2017
dbSNP: rs121908435
rs121908435
TRPS1
0.925 0.160 8 115418391 missense variant C/G;T snv
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.800 1.000 1 2001 2017
dbSNP: rs28939069
rs28939069
TRPS1
0.925 0.160 8 115415015 missense variant G/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.800 1.000 1 2004 2015
dbSNP: rs28939070
rs28939070
TRPS1
0.925 0.160 8 115415014 missense variant C/T snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.800 1.000 1 2004 2015
dbSNP: rs121908433
rs121908433
TRPS1
1.000 0.160 8 115418413 missense variant T/G snv
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.800 1.000 0 2001 2002
dbSNP: rs1554596397
rs1554596397
TRPS1
1.000 8 115604881 stop gained A/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2000 2015
dbSNP: rs1554596397
rs1554596397
TRPS1
1.000 8 115604881 stop gained A/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2000 2015
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 1.000 5 2001 2017
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 5 2001 2017
dbSNP: rs1057518972
rs1057518972
TRPS1
0.827 0.200 8 115418359 missense variant C/T snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 4 2008 2017
dbSNP: rs121908435
rs121908435
TRPS1
0.925 0.160 8 115418391 missense variant C/G;T snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 2 2015 2017
dbSNP: rs751565386
rs751565386
TRPS1
0.925 0.160 8 115418392 stop gained G/A;T snv 8.0E-06
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 2 2015 2017
dbSNP: rs751565386
rs751565386
TRPS1
0.925 0.160 8 115418392 stop gained G/A;T snv 8.0E-06
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 1.000 2 2015 2017
dbSNP: rs121908431
rs121908431
TRPS1
1.000 0.080 8 115604099 stop gained G/A;C snv 8.0E-06
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs121908432
rs121908432
TRPS1
1.000 0.080 8 115587144 stop gained G/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs121908436
rs121908436
TRPS1
0.925 0.160 8 115418358 missense variant G/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554592981
rs1554592981
TRPS1
1.000 0.080 8 115587306 frameshift variant -/G delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554592995
rs1554592995
TRPS1
1.000 0.080 8 115587345 frameshift variant CT/- delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554593099
rs1554593099
TRPS1
1.000 0.080 8 115587521 frameshift variant CA/- delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554595857
rs1554595857
TRPS1
1.000 0.080 8 115603875 stop gained G/T snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554595930
rs1554595930
TRPS1
1.000 0.080 8 115604087 stop gained G/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554596193
rs1554596193
TRPS1
1.000 0.080 8 115604509 frameshift variant T/- delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554596300
rs1554596300
TRPS1
1.000 0.080 8 115604737 frameshift variant -/G delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554596328
rs1554596328
TRPS1
1.000 0.080 8 115604792 frameshift variant -/A delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554596391
rs1554596391
TRPS1
1.000 0.080 8 115604864 stop gained G/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015