ClinVar Miner

Variants reported as protective

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Total variants: 88
Total variants unanimously reported as protective: 46

Breakdown by submitter #

Total submitters: 6
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Submitter Variants
OMIM 78
ClinVar Staff, National Center for Biotechnology Information (NCBI) 5
UCL Genetics Institute,UCL 2
GeneReviews 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 1
Laboratory of Immunology and Cellular Biotechnologies,Immanuel Kant Baltic Federal University 1

Breakdown by condition #

Total conditions: 54
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Condition Variants
Human immunodeficiency virus type 1, susceptibility to 10
Insulin-like growth factor 1 resistance to 9
Malaria, resistance to 7
Alcohol dependence 5
Coronary heart disease 4
Mycobacterium tuberculosis, protection against 3
Age-related macular degeneration 14 2
Alzheimer disease, protection against 2
Atopy, resistance to 2
Diabetes mellitus type 2 2
Lung cancer, protection against 2
Malaria, cerebral, resistance to 2
Malaria, severe, resistance to 2
Multiple myeloma, resistance to 2
Nicotine addiction, protection against 2
Nicotine dependence, protection against 2
Obesity 2
Aerodigestive tract cancer, squamous cell, alcohol-related, protection against 1
Asthma, protection against 1
Bacteremia, resistance to 1
Breast cancer, protection against 1
CYP2A6*4A 1
Colonic adenoma recurrence, reduced risk of 1
Colorectal cancer, protection against 1
Coronary artery disease, resistance to 1
Deep venous thrombosis, protection against 1
Dengue fever, protection against 1
Dna topoisomerase II, resistance to inhibition of, by amsacrine 1
Dystonia 1 1
Graft-versus-host disease, resistance to 1
Hirschsprung disease, protection against 1
Hypertension, diastolic, resistance to 1
Inflammatory bowel disease 17, protection against 1
Invasive pneumococcal disease, protection against 1
Kuru, protection against 1
Leprosy, protection against 1
Lung cancer, protection against, in smokers 1
Malignant melanoma of skin 1
Melioidosis, resistance to 1
Metabolic syndrome, protection against 1
Metabolic syndrome, susceptibility to 1
Migraine, resistance to 1
Myocardial infarction, protection against 1
Nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in 1
OBESITY, RESISTANCE TO 1
Pancreatitis, chronic, protection against 1
Parkinson disease, resistance to 1
Plasmodium vivax, resistance to 1
Psoriasis, protection against 1
Resistance to hepatitis C virus 1
Somatostatin analog, resistance to 1
Spinocerebellar ataxia, X-linked 1
Systemic lupus erythematosus, resistance to, 1 1
Venous thrombosis, protection against 1

Breakdown by gene #

Total genes and gene combinations: 61
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Gene Variants
IGF1R 9
APOC3 4
CCR5, CCR5AS 4
HBB, LOC106099062, LOC107133510 3
MC4R 3
ADH1B 2
ADH1C 2
CASP8 2
CCL2 2
CHRNA4 2
IL4R 2
LIG4 2
NOS2 2
SLC30A8 2
ACKR1 1
ALDH2 1
APP 1
ATP7A, PGAM4 1
C2 1
C2, CFB 1
CCL11 1
CCR2 1
CD209 1
CD36 1
CR1 1
CX3CR1 1
CXCL12 1
CYP2A6 1
EDNRA 1
EGFR 1
F13A1 1
F9 1
FCGR2B 1
GABBR2 1
GYPC 1
IFNG 1
IFNGR1 1
IL10, IL19 1
IL23R 1
KCNIP1, KCNMB1 1
LOC110973015, NOS3 1
MPO 1
MT-ND3 1
MTTP 1
MUC7 1
ODC1 1
PKHD1 1
PRNP 1
PRSS2, TRB 1
RET 1
SLC45A2 1
SLC4A1 1
SLC6A3 1
SSTR5 1
TIRAP 1
TLR1 1
TLR3 1
TLR5 1
TNF 1
TOP2A 1
TOR1A 1

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