SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2128939599 FLNC Health Risk Likely pathogenic —
RS2128939606 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS2128939610 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS2128939620 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS2128939622 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related disorder, Hereditary cancer-predisposing syndrome
RS2128940107 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS2128940130 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS2128940244 FLNC Health Risk Pathogenic —
RS2128940259 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS2128940335 FLNC Health Risk Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS2128940399 FLNC Health Risk Pathogenic/Likely pathogenic Primary familial dilated cardiomyopathy, Myofibrillar myopathy 5
RS2128940685 FLNC Health Risk Pathogenic —
RS2128942709 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS2128943032 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS2128946044 EGFR Health Risk Likely pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2128946276 EGFR Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2128946294 EGFR Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2128946456 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS2128946495 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2128948223 EYA1 Health Risk Likely pathogenic Branchiootorenal syndrome 1, Branchiootorenal syndrome 1
RS2128951023 ESCO2 Health Risk Pathogenic —
RS2128951038 ESCO2 Health Risk Pathogenic —
RS2128951088 ESCO2 Health Risk Pathogenic —
RS2128951089 ESCO2 Health Risk Pathogenic —
RS2128951110 ESCO2 Health Risk Pathogenic/Likely pathogenic Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome
RS2128951189 ESCO2 Health Risk Pathogenic —
RS2128951191 ESCO2 Health Risk Pathogenic/Likely pathogenic Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome
RS2128951192 ESCO2 Health Risk Pathogenic —
RS2128951206 ESCO2 Health Risk Pathogenic —
RS2128951232 ESCO2 Health Risk Pathogenic —
RS2128951287 ESCO2 Health Risk Pathogenic —
RS2128951366 ESCO2 Health Risk Pathogenic —
RS2128951424 EGFR Health Risk Likely pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2128951565 EYA1 Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS2128952254 ESCO2 Health Risk Pathogenic —
RS2128952376 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS2128952727 EGFR Health Risk Likely pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2128954790 EGFR Health Risk Likely pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS2128955140 ESCO2 Health Risk Likely pathogenic —
RS2128955152 ESCO2 Health Risk Likely pathogenic Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS2128955170 ESCO2 Health Risk Pathogenic —
RS2128956046 ESCO2 Health Risk Likely pathogenic —
RS2128957692 ESCO2 Health Risk Pathogenic Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS2128958225 EGFR Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2128958231 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2128958340 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS2128958651 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2128958905 EGFR Health Risk Likely pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2128963917 CAMK2B Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2128964427 EGFR Health Risk Likely pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS2128964585 EGFR Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2128965514 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS2128965518 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2128968646 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS2128968655 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2128969775 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2128969953 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2128971690 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2128972983 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS2128974636 TNPO3 Health Risk Likely pathogenic —
RS2128999571 BRAF Health Risk Pathogenic Pineoblastoma, Pineoblastoma
RS2128999606 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2128999627 EYA1 Health Risk Pathogenic/Likely pathogenic Melnick-Fraser syndrome, Branchiootorenal syndrome 1
RS2128999992 EYA1 Health Risk Likely pathogenic —
RS2129000083 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2129000122 EYA1 Health Risk Conflicting classifications of pathogenicity Melnick-Fraser syndrome, Branchiootic syndrome 1
RS2129000653 EYA1 Health Risk Pathogenic Branchiootic syndrome 1, Branchiootic syndrome 1
RS2129000663 EYA1 Health Risk Pathogenic/Likely pathogenic Melnick-Fraser syndrome, Branchiootic syndrome 1
RS2129015230 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2129015232 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS2129015276 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2129018408 BRAF Health Risk Pathogenic Colorectal cancer, RASopathy
RS2129019628 BRAF Health Risk Pathogenic Vascular malformation, Vascular malformation
RS2129023598 BRAF Health Risk Likely pathogenic —
RS2129025227 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2129031508 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2129044284 BRAF Health Risk Pathogenic/Likely pathogenic RASopathy, Noonan syndrome 7
RS2129044317 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS2129062565 DPP6 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS2129067294 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2129092780 KMT2C Health Risk Likely pathogenic KMT2C-related disorder, KMT2C-related disorder
RS2129095098 KMT2C Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2129099779 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2129101553 KMT2C Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2129112579 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2129112621 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2129114393 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS2129115127 KMT2C Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Kleefstra syndrome 2
RS2129115309 KMT2C Health Risk Likely pathogenic —
RS2129117914 KMT2C Health Risk Pathogenic —
RS2129119051 KMT2C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2129119362 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2129119384 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2129119641 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2129119932 KMT2C Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2129120525 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2129120710 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2129121010 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2129124731 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2129128809 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
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