rs397514641, NF1

N. diseases: 11
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 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 1.000 7 2000 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 1.000 5 2000 2015
Axillary freckling
CUI: C1860335
Disease: Axillary freckling
12 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
Cafe au lait spots, multiple
CUI: C1861975
Disease: Cafe au lait spots, multiple
13 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
Downturned corners of mouth
CUI: C1866195
Disease: Downturned corners of mouth
14 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
Eruptive xanthoma
CUI: C0221252
Disease: Eruptive xanthoma
1 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
Focal T2 hyperintense basal ganglia lesion
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
3 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
Neurofibromatoses
CUI: C0162678
Disease: Neurofibromatoses
16 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0