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: 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
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: 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: 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: rs864621974
rs864621974
TRPS1
1.000 0.080 8 115604276 stop gained G/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
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: 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: 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: rs1563623987
rs1563623987
TRPS1
0.925 0.160 8 115587133 stop gained A/C snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 0
dbSNP: rs1563623987
rs1563623987
TRPS1
0.925 0.160 8 115587133 stop gained A/C snv
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 0