SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
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: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.810 1.000 3 2014 2020
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C1335107
Disease: Olfactory Groove Meningioma
Olfactory Groove Meningioma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.010 1.000 1 2017 2017
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C1513734
Disease: Solid/Multicystic Ameloblastoma
Solid/Multicystic Ameloblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0457521
Disease: Unicystic ameloblastoma
Unicystic ameloblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0030354
Disease: Papilloma
Papilloma 		Neoplasms 0.700 0
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C3278658
Disease: Linear hyperpigmentation
Linear hyperpigmentation 		0.700 0
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		0.700 0
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.700 0
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		0.700 0
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis 		0.700 0
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0018552
Disease: Hamartoma
Hamartoma 		Neoplasms 0.700 0
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C4024220
Disease: Hypomelanotic macule
Hypomelanotic macule 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs879255280
rs879255280 		0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121918347
rs121918347 		0.851 0.080 7 129210500 missense variant G/T snv
CUI: C1335107
Disease: Olfactory Groove Meningioma
Olfactory Groove Meningioma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121918347
rs121918347 		0.851 0.080 7 129210500 missense variant G/T snv
CUI: C0025286
Disease: Meningioma
Meningioma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs778791846
rs778791846 		0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019