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: rs121918555
rs121918555
TUBB1
0.925 0.040 20 59024379 missense variant C/T snv 4.0E-06; 6.8E-05; 4.0E-06 2.8E-05
CUI: C2751259
Disease: Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 		0.800 1.000 0 2009 2009
dbSNP: rs121918555
rs121918555
TUBB1
0.925 0.040 20 59024379 missense variant C/T snv 4.0E-06; 6.8E-05; 4.0E-06 2.8E-05
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.710 1.000 1 2009 2019
dbSNP: rs560702757
rs560702757
TUBB1
1.000 0.120 20 59023745 stop gained C/G;T snv 4.0E-06
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 0
dbSNP: rs759117911
rs759117911
TUBB1
1.000 0.120 20 59023906 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 0
dbSNP: rs773248042
rs773248042
TUBB1
1.000 0.120 20 59019557 frameshift variant G/- del 5.6E-05
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 0