rs767961672, FOXG1

N. diseases: 4
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.
FOXG1 syndrome
CUI: C3150705
Disease: FOXG1 syndrome
46 0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016