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: 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: 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: rs17710891
rs17710891
0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
Neoplasms 0.700 1.000 2 2009 2012
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: 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: 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: rs41303402
rs41303402
1.000 0.040 7 129203437 missense variant G/A;T snv 1.0E-04; 5.7E-06
Experimental Organism Basal Cell Carcinoma
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs578002520
rs578002520
0.882 0.200 7 129203390 missense variant G/A snv 3.2E-05 1.3E-04
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
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: rs578002520
rs578002520
0.882 0.200 7 129203390 missense variant G/A snv 3.2E-05 1.3E-04
CUI: C0549307
Disease: Morning glory syndrome
Morning glory syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs770138808
rs770138808
1.000 0.080 7 129205241 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
Neoplasms; Infections 0.010 1.000 1 2017 2017
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
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: 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: rs778791846
rs778791846
0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05
CUI: C0549307
Disease: Morning glory syndrome
Morning glory syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
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: rs912880810
rs912880810
1.000 0.040 7 129203401 missense variant C/G;T snv
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: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
Neoplasms 0.010 1.000 1 2016 2016