ADAM10, ADAM metallopeptidase domain 10, 102

N. diseases: 224; N. variants: 27
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: rs442495
rs442495
1.000 0.080 15 58730416 intron variant T/C snv 0.49
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs483352912
rs483352912
1.000 0.080 15 58679193 missense variant G/A snv
Reticulate acropigmentation of Kitamura
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 1 2013 2013
dbSNP: rs483352916
rs483352916
1.000 0.080 15 58611932 missense variant C/T snv
Reticulate acropigmentation of Kitamura
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 1 2013 2013
dbSNP: rs514049
rs514049
0.827 0.160 15 58750164 intron variant C/A snv 0.57
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs514049
rs514049
0.827 0.160 15 58750164 intron variant C/A snv 0.57
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs514049
rs514049
0.827 0.160 15 58750164 intron variant C/A snv 0.57
Secondary malignant neoplasm of lymph node
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs514049
rs514049
0.827 0.160 15 58750164 intron variant C/A snv 0.57
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
Neoplasms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs514049
rs514049
0.827 0.160 15 58750164 intron variant C/A snv 0.57
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs602921
rs602921
15 58711735 intron variant C/T snv 3.5E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs61751103
rs61751103
0.925 0.080 15 58665172 missense variant C/G snv 1.2E-03 1.5E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs653765
rs653765
0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs653765
rs653765
0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs653765
rs653765
0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs653765
rs653765
0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45
Secondary malignant neoplasm of lymph node
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs653765
rs653765
0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
Neoplasms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs653765
rs653765
0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45
CUI: C1719672
Disease: Severe Sepsis
Severe Sepsis
Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2015 2015
dbSNP: rs653765
rs653765
0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs793417
rs793417
15 58703238 intron variant T/C snv 3.6E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012