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: rs1567773470
rs1567773470
1.000 0.120 17 44911238 missense variant G/C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
0.700 0
dbSNP: rs1567773470
rs1567773470
1.000 0.120 17 44911238 missense variant G/C snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
0.700 0
dbSNP: rs1567773470
rs1567773470
1.000 0.120 17 44911238 missense variant G/C snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1567773470
rs1567773470
1.000 0.120 17 44911238 missense variant G/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0