NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555618516
rs1555618516 		0.925 0.080 17 31258405 missense variant G/C snv
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.700 0
dbSNP: rs1555619056
rs1555619056 		0.925 0.160 17 31261858 splice donor variant G/A;C snv
CUI: C0002940
Disease: Aneurysm
Aneurysm 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057519369
rs1057519369 		0.790 0.280 17 31340532 frameshift variant -/G delins
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.700 0
dbSNP: rs762735676
rs762735676 		1.000 0.040 17 31221945 frameshift variant TTT/-;TTTT delins 6.6E-05
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs11080149
rs11080149 		1.000 0.040 17 31296270 missense variant C/T snv 9.1E-02 8.2E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs1057518842
rs1057518842 		1.000 0.080 17 31227215 splice region variant T/G snv
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518974
rs1057518974 		1.000 0.080 17 31334837 splice acceptor variant G/A snv
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057519369
rs1057519369 		0.790 0.280 17 31340532 frameshift variant -/G delins
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057519370
rs1057519370 		0.882 0.120 17 31159091 splice donor variant G/- delins
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137854550
rs137854550 		0.790 0.360 17 31258500 missense variant A/C;G snv
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555533285
rs1555533285 		1.000 0.080 17 31325859 stop gained C/G snv
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555534929
rs1555534929 		1.000 0.080 17 31337882 splice donor variant T/- del
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555535032
rs1555535032 		0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397514641
rs397514641 		0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs768638173
rs768638173 		0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs863224493
rs863224493 		0.925 0.120 17 31352281 stop gained G/A snv
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886041347
rs886041347 		0.790 0.320 17 31229061 stop gained C/T snv
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs143119709
rs143119709 		17 31165758 intron variant T/A snv 4.3E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs7503951
rs7503951 		17 31332574 intron variant G/T snv 0.87
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1057518792
rs1057518792 		1.000 0.080 17 31229024 splice acceptor variant G/A;C snv
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518807
rs1057518807 		0.882 0.200 17 31338788 stop gained C/T snv
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518842
rs1057518842 		1.000 0.080 17 31227215 splice region variant T/G snv
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518904
rs1057518904 		0.882 0.240 17 31221932 missense variant A/G snv
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137854550
rs137854550 		0.790 0.360 17 31258500 missense variant A/C;G snv
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555533285
rs1555533285 		1.000 0.080 17 31325859 stop gained C/G snv
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0