rs879255280, SMO

N. diseases: 22
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Winter Shortland Temple syndrome
CUI: C0795915
Disease: Winter Shortland Temple syndrome
1 0.701 0.200 7 129206557 missense variant C/T snv 0.810 1.000 3 2014 2020
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
Congenital dermal melanocytosis
CUI: C4020699
Disease: Congenital dermal melanocytosis
3 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
Hamartoma
CUI: C0018552
Disease: Hamartoma
8 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
Hyperpigmentation
CUI: C0162834
Disease: Hyperpigmentation
11 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
Hypomelanotic macule
CUI: C4024220
Disease: Hypomelanotic macule
1 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
Hypopigmentation disorder
CUI: C0162835
Disease: Hypopigmentation disorder
15 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
Linear hyperpigmentation
CUI: C3278658
Disease: Linear hyperpigmentation
2 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
Papilloma
CUI: C0030354
Disease: Papilloma
27 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
Polydactyly of toes
CUI: C0158734
Disease: Polydactyly of toes
2 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
Preaxial foot polydactyly
CUI: C2112942
Disease: Preaxial foot polydactyly
5 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
Secondary Caesarian section
CUI: C4072904
Disease: Secondary Caesarian section
13 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
Adult Medulloblastoma
CUI: C0278876
Disease: Adult Medulloblastoma
24 0.701 0.200 7 129206557 missense variant C/T snv 0.010 1.000 1 2020 2020
Childhood Medulloblastoma
CUI: C0278510
Disease: Childhood Medulloblastoma
25 0.701 0.200 7 129206557 missense variant C/T snv 0.010 1.000 1 2020 2020
CULLER-JONES SYNDROME
CUI: C4014479
Disease: CULLER-JONES SYNDROME
11 0.701 0.200 7 129206557 missense variant C/T snv 0.010 1.000 1 2017 2017
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.701 0.200 7 129206557 missense variant C/T snv 0.010 1.000 1 2020 2020
Olfactory Groove Meningioma
CUI: C1335107
Disease: Olfactory Groove Meningioma
2 0.701 0.200 7 129206557 missense variant C/T snv 0.010 1.000 1 2017 2017
Solid/Multicystic Ameloblastoma
CUI: C1513734
Disease: Solid/Multicystic Ameloblastoma
10 0.701 0.200 7 129206557 missense variant C/T snv 0.010 1.000 1 2019 2019
Unicystic ameloblastoma
CUI: C0457521
Disease: Unicystic ameloblastoma
4 0.701 0.200 7 129206557 missense variant C/T snv 0.010 1.000 1 2019 2019