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
RS200089613 HARS2 Health Risk Conflicting classifications of pathogenicity Sensorineural hearing loss disorder, Perrault syndrome
RS200089714 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Distal spinal muscular atrophy, Autosomal recessive distal spinal muscular atrophy 1
RS200089754 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS200090033 TMPRSS3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS200090059 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS200090198 ABCA3 Health Risk Conflicting classifications of pathogenicity —
RS200091031 CRB2 Health Risk Conflicting classifications of pathogenicity CRB2-related disorder, CRB2-related disorder
RS200091052 OXR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200091252 BLK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 11, BLK-related disorder
RS200091648 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200091654 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS200091763 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS200091822 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS200092211 CACNB4 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 5, Epilepsy
RS200092283 TUBGCP4 Health Risk Pathogenic/Likely pathogenic Microcephaly and chorioretinopathy 3, Autosomal recessive chorioretinopathy-microcephaly syndrome
RS200092854 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200092869 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS200093133 HDAC8 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 5, Inborn genetic diseases
RS200093209 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS200093225 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS200093414 PLXNA3 Health Risk Conflicting classifications of pathogenicity PLXNA3-related disorder, PLXNA3-related disorder
RS200093444 CD3G Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS200093886 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS200093958 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS200094067 PEX11B Health Risk Conflicting classifications of pathogenicity —
RS200094318 KLF11 Health Risk Conflicting classifications of pathogenicity —
RS200094721 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, MORM syndrome
RS200094982 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Retinal dystrophy
RS200095096 C2 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 14, Complement component 2 deficiency
RS200095202 CLCN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS200095299 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS200095747 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS200095793 SLC34A1 Health Risk Pathogenic/Likely pathogenic Hypercalcemia, infantile
RS200095847 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS200095915 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS200096552 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS200096597 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200096940 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS200097701 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS200097846 FAT1 Health Risk Conflicting classifications of pathogenicity —
RS200098134 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200098356 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Abnormality of the eye
RS200098409 ERCC3 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS200098419 COL13A1 Health Risk Conflicting classifications of pathogenicity COL13A1-related disorder, Inborn genetic diseases
RS200098438 RAX Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 3, Isolated microphthalmia 3
RS200098601 BDP1 Health Risk Conflicting classifications of pathogenicity BDP1-related disorder, BDP1-related disorder
RS200098813 KIFBP Health Risk Conflicting classifications of pathogenicity —
RS200098915 OPLAH Health Risk Conflicting classifications of pathogenicity 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS200099007 MAPT Health Risk Conflicting classifications of pathogenicity —
RS200099017 SAMD11 Health Risk Conflicting classifications of pathogenicity —
RS200099217 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Autosomal dominant nonsyndromic hearing loss 6
RS200099319 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS200099412 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Inborn genetic diseases
RS200099996 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS200100160 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, NBEAL2-related disorder
RS200100285 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS200100660 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200100926 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, ANKRD26-related disorder
RS200100952 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS200101143 ATAD3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200101760 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS200102302 UGT1A1 Health Risk Conflicting classifications of pathogenicity —
RS200102479 CHRNA1 Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Inborn genetic diseases
RS200102493 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS200102503 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS200102584 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS200102606 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS200102936 NR2E3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Enhanced S-cone syndrome
RS200103366 PARN Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 6
RS200103371 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Orthostatic hypotension 1
RS200103413 GRHL3 Health Risk Conflicting classifications of pathogenicity Van der Woude syndrome 2, Van der Woude syndrome 2
RS200103455 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Gastric cancer
RS200103591 APP Health Risk Conflicting classifications of pathogenicity Early-onset dementia of unclear type, Alzheimer disease
RS200103733 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS200103997 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS200104135 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, SLC22A12-related disorder
RS200104274 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS200104362 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss
RS200104538 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS200104720 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS200104745 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS200104823 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS200104963 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS200105202 AARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 8, Generalized muscle weakness
RS200105499 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS200105615 SLC5A1 Health Risk Likely pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS200106008 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS200106242 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS200106514 LRP1 Health Risk Pathogenic Developmental dysplasia of the hip 3, Developmental dysplasia of the hip 3
RS200106758 NEXN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS200107080 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS200107269 LAMB1 Health Risk Conflicting classifications of pathogenicity Cobblestone lissencephaly without muscular or ocular involvement, Inborn genetic diseases
RS200107528 KCNA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS200107630 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS200107906 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia, Hereditary spherocytosis type 4
RS200108105 AUTS2 Health Risk Conflicting classifications of pathogenicity —
RS200108494 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200109035 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS200109125 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
RS200109766 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
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