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: 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: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C4021959
Disease: Round ear
Round ear 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0015230
Disease: Exanthema
Exanthema 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0423867
Disease: Fine hair
Fine hair 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1842878
Disease: Short 5th finger
Short 5th finger 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1857482
Disease: Slender finger
Slender finger 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1844709
Disease: Radial deviation of the 2nd finger
Radial deviation of the 2nd finger 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		0.700 0