rs1057518791, TRPS1

N. diseases: 7
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.
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.925 0.120 8 115604739 stop gained C/T snv 0.700 0
High pitched voice
CUI: C0241703
Disease: High pitched voice
1 0.925 0.120 8 115604739 stop gained C/T snv 0.700 0
Hyperextensible skin
CUI: C0241074
Disease: Hyperextensible skin
11 0.925 0.120 8 115604739 stop gained C/T snv 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.925 0.120 8 115604739 stop gained C/T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.120 8 115604739 stop gained C/T snv 0.700 0
Sparse and thin eyebrow
CUI: C4282407
Disease: Sparse and thin eyebrow
8 0.925 0.120 8 115604739 stop gained C/T snv 0.700 0
Sparse hair
CUI: C1837770
Disease: Sparse hair
9 0.925 0.120 8 115604739 stop gained C/T snv 0.700 0