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: rs61751103
rs61751103 		0.925 0.080 15 58665172 missense variant C/G snv 1.2E-03 1.5E-03
CUI: C3810041
Disease: ALZHEIMER DISEASE 18
ALZHEIMER DISEASE 18 		0.800 1.000 2 2009 2013
dbSNP: rs483352912
rs483352912 		1.000 0.080 15 58679193 missense variant G/A snv
CUI: C0406811
Disease: Reticulate acropigmentation of Kitamura
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
CUI: C0406811
Disease: Reticulate acropigmentation of Kitamura
Reticulate acropigmentation of Kitamura 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 1 2013 2013
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: rs1194931775
rs1194931775 		1.000 0.080 15 58679139 missense variant G/A snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1336015995
rs1336015995 		1.000 0.080 15 58717640 missense variant C/T snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs514049
rs514049 		0.827 0.160 15 58750164 intron variant C/A snv 0.57
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 0.667 3 2012 2018
dbSNP: rs653765
rs653765 		0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 0.667 3 2012 2018
dbSNP: rs4238331
rs4238331 		15 58719934 intron variant T/G snv 0.63
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
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: C0686619
Disease: Secondary malignant neoplasm of lymph node
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: 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: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs12911832
rs12911832 		1.000 0.040 15 58693705 intron variant A/T snv 0.38
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 2 2017 2019
dbSNP: rs653765
rs653765 		0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.020 1.000 2 2015 2019
dbSNP: rs653765
rs653765 		0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.020 1.000 2 2015 2019
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