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: rs1555162323
rs1555162323
TUBA1A
1.000 12 49185407 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2007 2016
dbSNP: rs1555162407
rs1555162407
TUBA1A
12 49185942 missense variant C/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2007 2016