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: rs730882244
rs730882244
1.000 14 35077175 frameshift variant -/A delins
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs730882244
rs730882244
1.000 14 35077175 frameshift variant -/A delins
CUI: C0221358
Disease: Long narrow head
Long narrow head
0.700 0
dbSNP: rs730882244
rs730882244
1.000 14 35077175 frameshift variant -/A delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
0.700 0