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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs1554596393
rs1554596393
TRPS1
1.000 0.080 8 115604876 stop gained G/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554617549
rs1554617549
TRPS1
1.000 0.080 8 115418329 splice donor variant C/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554617561
rs1554617561
TRPS1
1.000 0.080 8 115418352 missense variant C/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554617573
rs1554617573
TRPS1
1.000 0.080 8 115418397 missense variant A/G snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554617580
rs1554617580
TRPS1
1.000 0.080 8 115418421 missense variant T/C snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1554617581
rs1554617581
TRPS1
1.000 0.080 8 115418422 missense variant T/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
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: rs752405769
rs752405769
TRPS1
1.000 0.080 8 115415107 intron variant A/C;G snv 4.7E-06
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015