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: rs121918347
rs121918347 		0.851 0.080 7 129210500 missense variant G/T snv
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.700 0
dbSNP: rs121918347
rs121918347 		0.851 0.080 7 129210500 missense variant G/T snv
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		0.700 0
dbSNP: rs121918348
rs121918348 		0.925 0.040 7 129210997 missense variant G/A snv 4.0E-05 2.8E-05
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		0.700 0
dbSNP: rs121918348
rs121918348 		0.925 0.040 7 129210997 missense variant G/A snv 4.0E-05 2.8E-05
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: 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: rs143083812
rs143083812 		1.000 0.040 7 129203569 missense variant C/T snv 4.1E-04 3.5E-04
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.710 1.000 1 2018 2018
dbSNP: rs1061280
rs1061280 		1.000 0.040 7 129213282 3 prime UTR variant A/G snv 0.15
CUI: C0014868
Disease: Esophagitis
Esophagitis 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1061285
rs1061285 		0.925 0.120 7 129213467 3 prime UTR variant C/A;G snv
CUI: C0014868
Disease: Esophagitis
Esophagitis 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1061285
rs1061285 		0.925 0.120 7 129213467 3 prime UTR variant C/A;G snv
CUI: C3714636
Disease: Pneumonitis
Pneumonitis 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
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: rs3824
rs3824 		1.000 0.080 7 129213012 3 prime UTR variant C/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015