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: rs121434318
rs121434318 		1.000 0.080 15 38299471 missense variant T/A snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.800 1.000 4 2007 2011
dbSNP: rs1057517941
rs1057517941 		1.000 0.080 15 38299386 stop gained C/T snv 7.0E-06
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.710 1.000 4 2009 2017
dbSNP: rs121434312
rs121434312 		1.000 0.080 15 38322382 stop gained C/T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.710 1.000 4 2007 2015
dbSNP: rs1555392032
rs1555392032 		1.000 15 38339805 frameshift variant -/A delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 14 1988 2013
dbSNP: rs1555392032
rs1555392032 		1.000 15 38339805 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 1988 2013
dbSNP: rs1555392032
rs1555392032 		1.000 15 38339805 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 14 1988 2013
dbSNP: rs878855228
rs878855228 		1.000 0.080 15 38351478 frameshift variant AG/- delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 5 2005 2011
dbSNP: rs1566876954
rs1566876954 		1.000 0.080 15 38351379 frameshift variant A/- delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 4 2007 2011
dbSNP: rs121434313
rs121434313 		1.000 0.080 15 38299410 stop gained C/T snv 7.0E-06
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 3 2007 2011
dbSNP: rs121434315
rs121434315 		1.000 0.080 15 38299530 stop gained C/T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 3 2007 2011
dbSNP: rs750777752
rs750777752 		1.000 0.080 15 38299392 stop gained C/A;G;T snv 4.0E-06
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 3 2009 2011
dbSNP: rs1555392609
rs1555392609 		1.000 0.080 15 38349515 stop gained C/T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2007 2012
dbSNP: rs1057518683
rs1057518683 		1.000 0.080 15 38351302 stop gained C/T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2007 2007
dbSNP: rs121434316
rs121434316 		1.000 0.080 15 38349476 stop gained C/T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1555391053
rs1555391053 		1.000 0.080 15 38322336 frameshift variant -/A delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2011 2011
dbSNP: rs7175472
rs7175472 		0.925 0.040 15 38254781 intron variant G/A;C;T snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7175472
rs7175472 		0.925 0.040 15 38254781 intron variant G/A;C;T snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs864622410
rs864622410 		1.000 0.080 15 38351125 frameshift variant AT/- del
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1060502505
rs1060502505 		1.000 0.080 15 38324807 stop gained C/T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121434314
rs121434314 		1.000 0.080 15 38349482 stop gained C/G;T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121434317
rs121434317 		1.000 0.080 15 38351113 stop gained A/T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555386649
rs1555386649 		1.000 0.080 15 38253186 frameshift variant AT/- del
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555386651
rs1555386651 		1.000 0.080 15 38253191 frameshift variant GAGGAGACGGCGAC/- delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555386654
rs1555386654 		1.000 0.080 15 38253209 frameshift variant T/- del
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555389690
rs1555389690 		1.000 0.080 15 38299443 stop gained G/T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0