rs137854562, NF1

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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.120 17 31235623 stop gained C/T snv 0.700 1.000 34 1967 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 0.120 17 31235623 stop gained C/T snv 0.700 1.000 34 1967 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.120 17 31235623 stop gained C/T snv 0.700 1.000 34 1967 2017
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 0.925 0.120 17 31235623 stop gained C/T snv 0.720 1.000 6 2000 2015