rs1057519087, MFSD2A

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.
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
4 0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06 0.800 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
Microcephaly
CUI: C0025958
Disease: Microcephaly
27 0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015