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
RS748394046 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS748394238 CERKL Health Risk Pathogenic Retinitis pigmentosa 26, Retinal dystrophy
RS748394297 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases
RS748394417 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS748394731 SLC25A20 Health Risk Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency, SLC25A20-related disorder
RS748396067 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS748396149 PLEKHG2 Health Risk Conflicting classifications of pathogenicity —
RS748396645 PCARE Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 54
RS748397131 RTN2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 12, Spastic paraplegia
RS748397580 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS748398268 HOXD13 Health Risk Conflicting classifications of pathogenicity Skeletal dysplasia, Skeletal dysplasia
RS748398314 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS748398869 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS748398941 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS748399477 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Dilated cardiomyopathy 1C
RS748399766 SLC24A1 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS748399924 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748400155 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Continuous spike and waves during slow sleep
RS748400535 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS748400605 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS748401794 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS748402153 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 10
RS748402163 HARS2 Health Risk Likely pathogenic Perrault syndrome 2, Perrault syndrome 2
RS748402420 SLC7A9 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS748402485 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS748402637 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS748404277 VPS13B Health Risk Pathogenic Cohen syndrome, Abnormality of the eye
RS748404777 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS748404878 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, FBXL4-related disorder
RS748407052 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS748407996 PRPF8 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS748408098 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS748408459 SRD5A3 Health Risk Conflicting classifications of pathogenicity SRD5A3-congenital disorder of glycosylation, Inborn genetic diseases
RS748410422 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS748411156 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS748412274 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS748412471 TDRD7 Health Risk Likely pathogenic Cataract 36, Cataract 36
RS748412838 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS748413058 DMXL2 Health Risk Likely pathogenic —
RS748413124 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B
RS748413646 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS748413985 TBC1D8B Health Risk Pathogenic Nephrotic syndrome, type 20
RS748414191 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS748415049 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS748416710 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS748416758 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiomyopathy
RS748416799 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS748417604 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS748417793 ZFX Health Risk Pathogenic Intellectual developmental disorder, X-linked
RS748418658 CD27 Health Risk Pathogenic Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2
RS748419325 FBN2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Congenital contractural arachnodactyly
RS748419907 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS748420513 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Nephrolithiasis/nephrocalcinosis
RS748422794 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748423430 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS748423645 ERCC6 Health Risk Likely pathogenic —
RS748424210 ACVR1 Health Risk Conflicting classifications of pathogenicity Progressive myositis ossificans, Progressive myositis ossificans
RS748424414 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748424712 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS748424949 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS748425041 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS748427000 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS748427458 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS748428531 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS748428663 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Hemolytic anemia
RS748430513 NEK8 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS748430621 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS748431296 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS748431584 CD36 Health Risk Pathogenic CD36-related disorder, Platelet-type bleeding disorder 10
RS748431827 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS748432349 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS748432685 GHRHR Health Risk Pathogenic —
RS748433510 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS748436283 MYH3 Health Risk Conflicting classifications of pathogenicity MYH3-related disorder, MYH3-related disorder
RS748436953 WASHC4 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 43
RS748437548 PCK1 Health Risk Conflicting classifications of pathogenicity —
RS748438266 C8A Health Risk Pathogenic —
RS748438350 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS748439275 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS748440351 COL11A2 Health Risk Pathogenic Heart, malformation of
RS748440695 DNAAF4 Health Risk Pathogenic/Likely pathogenic —
RS748440817 SDHC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS748441485 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS748442113 OCLN Health Risk Pathogenic/Likely pathogenic Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
RS748442759 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748445058 PNPT1 Health Risk Likely pathogenic Spinocerebellar ataxia type 25, Spinocerebellar ataxia type 25
RS748445140 KCNJ2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS748447513 CYP11B1 Health Risk Likely pathogenic —
RS748448687 FCHO1 Health Risk Conflicting classifications of pathogenicity —
RS748449813 ELP1 Health Risk Pathogenic/Likely pathogenic Medulloblastoma, Familial dysautonomia
RS748450705 KATNIP Health Risk Pathogenic/Likely pathogenic —
RS748450834 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS748450888 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748451307 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS748451478 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS748453057 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS748453083 MED12 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability with marfanoid habitus, Cholestasis-pigmentary retinopathy-cleft palate syndrome
RS748453607 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS748453696 NEUROG1 Health Risk Pathogenic Cranial dysinnervation disorder, congenital
RS748453841 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
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