rs137853049, TUBA1A

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 0.240 12 49185102 missense variant G/A snv 0.700 1.000 11 2007 2016
Lissencephaly 3
CUI: C1969029
Disease: Lissencephaly 3
40 1.000 0.240 12 49185102 missense variant G/A snv 0.700 0