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: rs1057518939
rs1057518939
1.000 0.036 8 99511424 frameshift variant CA/C in-del
CUI: C0575802
Disease: Small hand
Small hand
0.700 1 2015 2015
dbSNP: rs1057518939
rs1057518939
1.000 0.036 8 99511424 frameshift variant CA/C in-del
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1057518939
rs1057518939
1.000 0.036 8 99511424 frameshift variant CA/C in-del
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1 2015 2015
dbSNP: rs1057518939
rs1057518939
1.000 0.036 8 99511424 frameshift variant CA/C in-del
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 1 2015 2015
dbSNP: rs1057518939
rs1057518939
1.000 0.036 8 99511424 frameshift variant CA/C in-del
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
0.700 1 2015 2015
dbSNP: rs1057518939
rs1057518939
1.000 0.036 8 99511424 frameshift variant CA/C in-del
Decreased visual acuity, progressive
0.700 1 2015 2015
dbSNP: rs1057518939
rs1057518939
1.000 0.036 8 99511424 frameshift variant CA/C in-del
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer
0.700 1 2015 2015
dbSNP: rs1057518939
rs1057518939
1.000 0.036 8 99511424 frameshift variant CA/C in-del
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased
0.700 1 2015 2015
dbSNP: rs1057518939
rs1057518939
1.000 0.036 8 99511424 frameshift variant CA/C in-del
CUI: C0424688
Disease: Small head
Small head
0.700 1 2015 2015