KATNB1, katanin regulatory subunit B1, 10300

N. diseases: 42; N. variants: 6
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs730880257
rs730880257 		1.000 16 57755878 missense variant C/T snv
CUI: C4015525
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.800 0
dbSNP: rs730880258
rs730880258 		1.000 16 57755893 missense variant T/G snv
CUI: C4015525
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.800 0
dbSNP: rs730880259
rs730880259 		1.000 16 57741743 missense variant G/A;T snv 4.0E-06
CUI: C4015525
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.800 0
dbSNP: rs879255517
rs879255517 		1.000 16 57751654 frameshift variant C/- delins
CUI: C4015525
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.700 0
dbSNP: rs879255518
rs879255518 		1.000 16 57737244 start lost A/G snv
CUI: C4015525
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.700 0
dbSNP: rs879255519
rs879255519 		1.000 16 57751303 splice donor variant G/A snv
CUI: C4015525
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.700 0