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: rs61745597
rs61745597
1.000 0.120 4 112623837 missense variant G/A;C;T snv 4.1E-06; 1.2E-02
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal
0.700 0
dbSNP: rs76187047
rs76187047
1.000 0.120 4 112585555 missense variant C/G;T snv 4.1E-06; 1.3E-02
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal
0.700 0