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: 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: rs1554617582
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		0.700 0
dbSNP: rs1554617582
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.700 0
dbSNP: rs1554617582
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		0.700 0
dbSNP: rs1554617582
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct 		0.700 0
dbSNP: rs1554617582
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs1554617582
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		0.700 0
dbSNP: rs1563714392
rs1563714392
TRPS1
1.000 0.080 8 115415008 frameshift variant -/AAGGCGCT delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 0
dbSNP: rs1554596430
rs1554596430
TRPS1
1.000 0.080 8 115604954 frameshift variant -/ATCTG delins
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: 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: rs1554617567
rs1554617567
TRPS1
1.000 0.080 8 115418369 frameshift variant -/G ins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 1.000 1 2015 2015
dbSNP: rs1563638577
rs1563638577
TRPS1
0.925 0.160 8 115604951 frameshift variant -/GCAA delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 0
dbSNP: rs1563638577
rs1563638577
TRPS1
0.925 0.160 8 115604951 frameshift variant -/GCAA delins
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 0
dbSNP: rs1554617078
rs1554617078
TRPS1
1.000 0.080 8 115415048 frameshift variant -/GTTTTGTT delins
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: 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
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: 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: rs1563637033
rs1563637033
TRPS1
0.925 0.160 8 115604264 frameshift variant ATGGAGCTGTT/- delins
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.700 0
dbSNP: rs1563637033
rs1563637033
TRPS1
0.925 0.160 8 115604264 frameshift variant ATGGAGCTGTT/- delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		0.700 0
dbSNP: rs1554616971
rs1554616971
TRPS1
1.000 0.080 8 115414831 frameshift variant C/- del
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