rs886040971, TRPS1

N. diseases: 56
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Trichorhinophalangeal dysplasia type I
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
43 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 1.000 5 2001 2017
Trichorhinophalangeal Syndrome, Type III
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
14 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 1.000 5 2001 2017
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Brachyonychia
CUI: C0423808
Disease: Brachyonychia
2 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Broad forehead
CUI: C1849089
Disease: Broad forehead
13 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Broad hallux
CUI: C1867131
Disease: Broad hallux
14 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Broad thumbs
CUI: C0426891
Disease: Broad thumbs
11 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Cone-shaped epiphysis
CUI: C1865037
Disease: Cone-shaped epiphysis
2 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
31 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Dental caries
CUI: C0011334
Disease: Dental caries
126 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Exanthema
CUI: C0015230
Disease: Exanthema
14 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Fair hair
CUI: C1849221
Disease: Fair hair
5 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Fine hair
CUI: C0423867
Disease: Fine hair
1 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Heart murmur
CUI: C0018808
Disease: Heart murmur
10 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
High forehead
CUI: C0239676
Disease: High forehead
17 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Hyperextensible thumb
CUI: C4025148
Disease: Hyperextensible thumb
2 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Hypotrichosis of the scalp
CUI: C1873509
Disease: Hypotrichosis of the scalp
1 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0