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
RS762678902 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS762679102 CERS3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 9, Autosomal recessive congenital ichthyosis 9
RS762679408 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS762680314 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS762680917 NDUFS7 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 3
RS762681376 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS762682111 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS762682222 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS762682812 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS762682866 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762683334 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS762683460 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS762685098 LIFR Health Risk Conflicting classifications of pathogenicity Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS762685242 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS762685365 NHS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nance-Horan syndrome
RS762685822 TTC7A Health Risk Pathogenic/Likely pathogenic Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS762687506 TREX1 Health Risk Conflicting classifications of pathogenicity Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Aicardi-Goutieres syndrome 1
RS762688861 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762688935 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS762689516 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS762692063 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS762692123 MC2R Health Risk Pathogenic Glucocorticoid Deficiency, Glucocorticoid Deficiency
RS762692505 GANAB Health Risk Conflicting classifications of pathogenicity —
RS762692764 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS762693700 EIF2AK3 Health Risk Conflicting classifications of pathogenicity —
RS762695522 ATXN3L Health Risk Conflicting classifications of pathogenicity —
RS7626962 SCN5A Health Risk Conflicting classifications of pathogenicity SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 3
RS762696210 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS762696562 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS762698300 CYP2U1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS762698567 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS762699995 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS762700531 HADHA Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS762700653 ZIC2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 5, Holoprosencephaly 5
RS762701125 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS762701283 HINT1 Health Risk Likely pathogenic Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
RS762701532 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS762701579 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, XRCC2-related disorder
RS762701727 DUOX2 Health Risk Likely pathogenic —
RS762702807 USP53 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS762703502 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS762704370 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Nephrotic syndrome
RS762704751 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS762704832 CHRNE Health Risk Conflicting classifications of pathogenicity —
RS762704959 DNAAF4 Health Risk Pathogenic/Likely pathogenic DNAAF4-related disorder, DNAAF4-related disorder
RS762705295 KCNMA1 Health Risk Pathogenic Cerebellar atrophy, developmental delay
RS762705451 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS762706488 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS762706687 CNGA1 Health Risk Pathogenic —
RS762708303 TYROBP Health Risk Conflicting classifications of pathogenicity —
RS762708893 GSDME Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762708936 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS762709199 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Kidney disorder
RS762710224 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS762710723 TRMU Health Risk Conflicting classifications of pathogenicity Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS762711020 MAP3K7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762712870 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS762713132 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, See cases
RS762713320 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS762713626 TBR1 Health Risk Likely pathogenic Moderate global developmental delay, Autistic behavior
RS762714074 CUL7 Health Risk Pathogenic —
RS762716070 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS762716289 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS762716384 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Curry-Hall syndrome
RS762717269 BICD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS762717963 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS762718963 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS762720357 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS762721401 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS762722282 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS762724830 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS762725821 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS762725902 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS762727293 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS762727530 COL11A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS762727830 CYP11B2 Health Risk Pathogenic/Likely pathogenic CYP11B2-related disorder, CYP11B2-related disorder
RS762729182 DHTKD1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Q, Charcot-Marie-Tooth disease axonal type 2Q
RS762729346 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS762730300 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS762730861 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS762731249 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS762731645 UBR1 Health Risk Conflicting classifications of pathogenicity —
RS762731709 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762731863 ENPP1 Health Risk Pathogenic —
RS762733251 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 7, Paget disease of bone 2
RS762733592 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS762733814 KIZ Health Risk Pathogenic —
RS762734007 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS762734252 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS762734569 MYH3 Health Risk Conflicting classifications of pathogenicity —
RS762734676 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy
RS762734699 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS762735151 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS762735676 NF1 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Neurofibromatosis
RS762736246 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762737130 NRROS Health Risk Pathogenic Seizures, early-onset
RS762737147 AGK Health Risk Conflicting classifications of pathogenicity Cataract 38, Sengers syndrome
RS762738493 LAMC3 Health Risk Pathogenic —
RS762738569 TRMU Health Risk Pathogenic/Likely pathogenic Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS762738968 ERCC4 Health Risk Pathogenic Cockayne syndrome, Fanconi anemia complementation group Q
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