Source: UNIPROT

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: rs137852818
rs137852818
CASK
0.925 0.200 X 41542717 missense variant T/C snv
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.800 1.000 2 2008 2009
dbSNP: rs137852820
rs137852820
CASK
0.925 0.200 X 41589562 missense variant G/A;C snv 6.0E-05
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.800 1.000 2 2008 2009
dbSNP: rs137852816
rs137852816
CASK
0.925 0.160 X 41853204 missense variant C/A snv
CUI: C1845546
Disease: FG SYNDROME 4 (disorder)
FG SYNDROME 4 (disorder) 		0.800 1.000 1 2009 2009
dbSNP: rs137852817
rs137852817
CASK
0.925 0.200 X 41660468 missense variant A/G snv
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.700 1.000 2 2008 2009