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: rs1057518791
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.700 0
dbSNP: rs1057518791
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 0
dbSNP: rs1057518791
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518791
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv
CUI: C0241703
Disease: High pitched voice
High pitched voice 		0.700 0
dbSNP: rs1057518791
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		0.700 0
dbSNP: rs1057518791
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		0.700 0
dbSNP: rs1057518791
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv
CUI: C1837770
Disease: Sparse hair
Sparse hair 		0.700 0
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: rs1057518972
rs1057518972
TRPS1
0.827 0.200 8 115418359 missense variant C/T snv
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		0.700 0
dbSNP: rs1057518972
rs1057518972
TRPS1
0.827 0.200 8 115418359 missense variant C/T snv
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		0.700 0
dbSNP: rs1057518972
rs1057518972
TRPS1
0.827 0.200 8 115418359 missense variant C/T snv
CUI: C1853482
Disease: Pear-shaped nose
Pear-shaped nose 		0.700 0
dbSNP: rs1057518972
rs1057518972
TRPS1
0.827 0.200 8 115418359 missense variant C/T snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0
dbSNP: rs121908430
rs121908430
TRPS1
1.000 0.080 8 115604916 stop gained G/T snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 0
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: 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: rs121908434
rs121908434
TRPS1
1.000 0.080 8 115414593 stop gained G/C snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 0
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: 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: rs121908436
rs121908436
TRPS1
0.925 0.160 8 115418358 missense variant G/A snv
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 0
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: rs1554593085
rs1554593085
TRPS1
0.925 0.160 8 115587497 frameshift variant GATGTCCTGT/- delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 0