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: rs587784491
rs587784491
TUBA1A
0.925 0.240 12 49186832 missense variant C/T snv
CUI: C0424688
Disease: Small head
Small head 		0.700 0