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: rs199474750
rs199474750
NF1
1.000 0.120 17 31258502 missense variant G/A;C;T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.810 1.000 1 1990 2018
dbSNP: rs199474750
rs199474750
NF1
1.000 0.120 17 31258502 missense variant G/A;C;T snv
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.010 1.000 1 2018 2018