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
RS150710381 CARMIL2 Health Risk Conflicting classifications of pathogenicity CARMIL2-related disorder, Thymoma
RS150711066 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS150711606 MED13L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dextro-looped transposition of the great arteries
RS150711896 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Cone-rod dystrophy
RS150712346 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS150712805 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS150713148 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 5
RS150713761 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS150715226 SIX6 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS150715355 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS150716220 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS150716717 GLRA1 Health Risk Conflicting classifications of pathogenicity Hereditary hyperekplexia, Hereditary hyperekplexia
RS150716811 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia 1
RS150716868 MID2 Health Risk Conflicting classifications of pathogenicity —
RS150717084 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS150717489 CCBE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150717638 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS150718732 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS150718854 MAFB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Multicentric carpo-tarsal osteolysis with or without nephropathy
RS150719105 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS150721027 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS150721350 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Inborn genetic diseases
RS150721582 SCN1B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 5
RS150721983 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS150722551 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS150723002 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases
RS150723764 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS150724234 SLC26A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150724610 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS150725992 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS150726107 MYO9A Health Risk Conflicting classifications of pathogenicity Myasthenic syndrome, congenital
RS150726175 NMNAT1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis
RS150726851 SLC26A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150726932 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Inborn genetic diseases
RS150727525 ERCC8 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 1, UV-sensitive syndrome 2
RS150727558 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS150727562 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS150728539 TG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150728610 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS150729680 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Inborn genetic diseases
RS150730577 OCLN Health Risk Conflicting classifications of pathogenicity Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
RS150730718 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS150730793 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS150731428 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS150731625 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS150732086 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CODAS syndrome
RS150732826 AGK Health Risk Conflicting classifications of pathogenicity Cataract 38, Sengers syndrome
RS150733154 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder
RS150733188 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS150733820 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS150734057 PEX2 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 5A (Zellweger), PEX2-related disorder
RS150734270 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS150734280 CCM2 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Inborn genetic diseases
RS150734530 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS150734807 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS150734856 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS150734953 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS150735474 VCAN Health Risk Conflicting classifications of pathogenicity —
RS150735582 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS150736564 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8-related disorder
RS150736997 RXYLT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS150737353 TOP1MT Health Risk Conflicting classifications of pathogenicity —
RS150737838 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS150738221 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Polycystic liver disease 1
RS150739124 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS150739354 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS150739429 CYP4F22 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS150739647 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency
RS150739904 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS150740479 ZMPSTE24 Health Risk Conflicting classifications of pathogenicity Cervical cancer, Familial cancer of breast
RS150740488 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS150740880 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS150742426 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Intellectual disability
RS150743616 TRPV3 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, TRPV3-related disorder
RS150743664 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS150744159 EHHADH Health Risk Conflicting classifications of pathogenicity EHHADH-related disorder, EHHADH-related disorder
RS150745395 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS150745595 PPA2 Health Risk Conflicting classifications of pathogenicity —
RS150746317 BMP4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, BMP4-related disorder
RS150746534 SCARF2 Health Risk Conflicting classifications of pathogenicity Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
RS150747540 UBR4 Health Risk Conflicting classifications of pathogenicity —
RS150747960 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Connective tissue disorder
RS150748757 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS150749300 CEP57 Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2, Inborn genetic diseases
RS150749307 WASHC5 Health Risk Pathogenic Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS150750727 LRIT3 Health Risk Conflicting classifications of pathogenicity —
RS150751460 CLCN2 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS150751809 SLC12A6 Health Risk Conflicting classifications of pathogenicity SLC12A6-related disorder, Charcot-Marie-Tooth disease
RS150752263 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Intellectual disability
RS150752548 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS150755165 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS150755807 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS150756111 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS150756182 SPEN Health Risk Conflicting classifications of pathogenicity SPEN-related disorder, SPEN-related disorder
RS150757082 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS150757295 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS150757617 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS150757822 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS150759461 MYH11 Health Risk Conflicting classifications of pathogenicity Altered myosin contractile function, Loeys-Dietz syndrome
RS150759476 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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