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: rs386834061
rs386834061
0.923 0.321 8 99868312 stop gained C/T snp
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 2 2004 2008
dbSNP: rs386834061
rs386834061
0.923 0.321 8 99868312 stop gained C/T snp
CUI: C0424688
Disease: Small head
Small head
0.700 1 2015 2015
dbSNP: rs386834061
rs386834061
0.923 0.321 8 99868312 stop gained C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs386834061
rs386834061
0.923 0.321 8 99868312 stop gained C/T snp
Decreased visual acuity, progressive
0.700 1 2015 2015
dbSNP: rs386834061
rs386834061
0.923 0.321 8 99868312 stop gained C/T snp
CUI: C0575802
Disease: Small hand
Small hand
0.700 1 2015 2015
dbSNP: rs386834061
rs386834061
0.923 0.321 8 99868312 stop gained C/T snp
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
0.700 1 2015 2015
dbSNP: rs386834061
rs386834061
0.923 0.321 8 99868312 stop gained C/T snp
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer
0.700 1 2015 2015
dbSNP: rs386834061
rs386834061
0.923 0.321 8 99868312 stop gained C/T snp
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 1 2015 2015
dbSNP: rs386834061
rs386834061
0.923 0.321 8 99868312 stop gained C/T snp
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased
0.700 1 2015 2015
dbSNP: rs386834061
rs386834061
0.923 0.321 8 99868312 stop gained C/T snp
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1 2015 2015