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: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
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: 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: rs17710891
rs17710891 		0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.700 1.000 3 2009 2015
dbSNP: rs41303402
rs41303402 		1.000 0.040 7 129203437 missense variant G/A;T snv 1.0E-04; 5.7E-06
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs912880810
rs912880810 		1.000 0.040 7 129203401 missense variant C/G;T snv
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.010 1.000 1 2016 2016
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: 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: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.700 0
dbSNP: rs778791846
rs778791846 		0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 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: rs578002520
rs578002520 		0.882 0.200 7 129203390 missense variant G/A snv 3.2E-05 1.3E-04
CUI: C0344535
Disease: Congenital corneal opacity
Congenital corneal opacity 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs778791846
rs778791846 		0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05
CUI: C0344535
Disease: Congenital corneal opacity
Congenital corneal opacity 		Eye Diseases 0.010 1.000 1 2019 2019
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: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.010 1.000 1 2017 2017
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: rs41303402
rs41303402 		1.000 0.040 7 129203437 missense variant G/A;T snv 1.0E-04; 5.7E-06
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs912880810
rs912880810 		1.000 0.040 7 129203401 missense variant C/G;T snv
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		Neoplasms 0.010 1.000 1 2016 2016
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: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		Skin and Connective Tissue Diseases 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: 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: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		Skin and Connective Tissue Diseases 0.700 0