rs1057518904, NF1

N. diseases: 5
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.240 17 31221932 missense variant A/G snv 0.700 1.000 7 1994 2013
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 0.882 0.240 17 31221932 missense variant A/G snv 0.700 1.000 6 1994 2015
Cafe au lait spots, multiple
CUI: C1861975
Disease: Cafe au lait spots, multiple
13 0.882 0.240 17 31221932 missense variant A/G snv 0.700 0
Neurofibromatoses
CUI: C0162678
Disease: Neurofibromatoses
16 0.882 0.240 17 31221932 missense variant A/G snv 0.700 0
Optic Nerve Glioma
CUI: C0346326
Disease: Optic Nerve Glioma
9 0.882 0.240 17 31221932 missense variant A/G snv 0.700 0