rs786201003, NALCN

N. diseases: 3
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.
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
21 0.925 0.080 13 101083752 missense variant C/T snv 0.700 1.000 1 2015 2015
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
33 0.925 0.080 13 101083752 missense variant C/T snv 0.010 1.000 1 2015 2015
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.925 0.080 13 101083752 missense variant C/T snv 0.010 1.000 1 2015 2015