Source: BEFREE

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: rs587777570
rs587777570
KIF5C
1.000 2 148947018 missense variant G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2014 2014
dbSNP: rs587777570
rs587777570
KIF5C
1.000 2 148947018 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2014 2014
dbSNP: rs587777570
rs587777570
KIF5C
1.000 2 148947018 missense variant G/A snv
CUI: C0302142
Disease: Deformity
Deformity 		0.010 1.000 1 2014 2014