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: rs1057518791
rs1057518791
0.923 0.107 8 115604739 stop gained C/T snp
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow
0.700 0
dbSNP: rs1057518791
rs1057518791
0.923 0.107 8 115604739 stop gained C/T snp
CUI: C1837770
Disease: Sparse hair
Sparse hair
0.700 0
dbSNP: rs1057518791
rs1057518791
0.923 0.107 8 115604739 stop gained C/T snp
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin
0.700 0
dbSNP: rs1057518791
rs1057518791
0.923 0.107 8 115604739 stop gained C/T snp
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
0.700 0
dbSNP: rs1057518791
rs1057518791
0.923 0.107 8 115604739 stop gained C/T snp
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull
0.700 0
dbSNP: rs1057518791
rs1057518791
0.923 0.107 8 115604739 stop gained C/T snp
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 0
dbSNP: rs1057518791
rs1057518791
0.923 0.107 8 115604739 stop gained C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057518791
rs1057518791
0.923 0.107 8 115604739 stop gained C/T snp
CUI: C0241703
Disease: High pitched voice
High pitched voice
0.700 0