rs199474750, NF1

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.
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 1.000 0.120 17 31258502 missense variant G/A;C;T snv 0.810 1.000 22 1990 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.120 17 31258502 missense variant G/A;C;T snv 0.700 1.000 2 2003 2015
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
25 1.000 0.120 17 31258502 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018