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.
Joint laxity
CUI: C0086437
Disease: Joint laxity
15 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Langer-Giedion Syndrome
CUI: C0023003
Disease: Langer-Giedion Syndrome
3 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Long philtrum
CUI: C1865014
Disease: Long philtrum
16 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Malar flattening
CUI: C1858085
Disease: Malar flattening
12 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Malocclusion
CUI: C0024636
Disease: Malocclusion
10 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Pear-shaped nose
CUI: C1853482
Disease: Pear-shaped nose
2 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Periorbital fullness
CUI: C1858036
Disease: Periorbital fullness
4 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Radial deviation of the 2nd finger
CUI: C1844709
Disease: Radial deviation of the 2nd finger
1 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Round ear
CUI: C4021959
Disease: Round ear
4 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Short 5th finger
CUI: C1842878
Disease: Short 5th finger
3 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Short 5th metacarpal
CUI: C1861388
Disease: Short 5th metacarpal
3 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Slender finger
CUI: C1857482
Disease: Slender finger
5 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Slow-growing hair
CUI: C1832348
Disease: Slow-growing hair
1 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Slow-growing nails
CUI: C1835238
Disease: Slow-growing nails
1 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Smooth philtrum
CUI: C1142533
Disease: Smooth philtrum
10 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Sparse eyebrow
CUI: C1832446
Disease: Sparse eyebrow
6 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
Tapering pointed ends of distal finger phalanges
CUI: C4025078
Disease: Tapering pointed ends of distal finger phalanges
1 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0