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
RS2515401 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Acrodermatitis continua suppurativa of Hallopeau
RS2515402 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Acrodermatitis continua suppurativa of Hallopeau
RS2515403750 TNNT1 Health Risk Likely pathogenic Nemaline myopathy 5, Nemaline myopathy 5C
RS2515403962 TNNT1 Health Risk Pathogenic Nemaline myopathy 5B, autosomal recessive
RS2515404859 TNNT1 Health Risk Pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS2515417949 TTI1 Health Risk Pathogenic Severe intellectual disability, Severe intellectual disability
RS2515417992 TTI1 Health Risk Likely pathogenic —
RS2515418088 TTI1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly and movement abnormalities, Neurodevelopmental disorder with microcephaly and movement abnormalities
RS2515419697 GDF5 Health Risk Pathogenic —
RS2515421573 TNNT1 Health Risk Pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS2515422575 HNF4A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2515422927 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS2515424923 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515424995 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515425418 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515425812 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515426073 GDF5 Health Risk Pathogenic —
RS2515426768 GDF5 Health Risk Pathogenic —
RS2515427372 GDF5 Health Risk Pathogenic —
RS2515427481 GDF5 Health Risk Pathogenic —
RS2515431543 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515431696 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515432127 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515432357 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515433168 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515433250 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515433373 CTSA Health Risk Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515434546 CTSA Health Risk Pathogenic/Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515435428 CTSA Health Risk Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515435811 CTSA Health Risk Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515440641 CTSA Health Risk Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515440663 CTSA Health Risk Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515441206 CTSA Health Risk Pathogenic/Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515441270 CTSA Health Risk Pathogenic/Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515441946 TNNT1 Health Risk Likely pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS2515443940 TNNT1 Health Risk Likely pathogenic Nemaline myopathy 5, Nemaline myopathy 5B
RS2515444704 TNNT1 Health Risk Pathogenic Nemaline myopathy 5C, autosomal dominant
RS2515445641 CTSA Health Risk Pathogenic/Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515445661 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515447713 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515448551 CTSA Health Risk Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515448712 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2515454786 PLCB4 Health Risk Likely pathogenic —
RS2515458116 ZNF341 Health Risk Pathogenic —
RS2515462014 TTI1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly and movement abnormalities, Neurodevelopmental disorder with microcephaly and movement abnormalities
RS2515462580 MAFB Health Risk Likely pathogenic —
RS2515463612 MAFB Health Risk Likely pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy
RS2515463632 MAFB Health Risk Pathogenic MAFB-related disorder, MAFB-related disorder
RS2515463636 MAFB Health Risk Pathogenic —
RS2515463659 MAFB Health Risk Likely pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy
RS2515470310 TNNT1 Health Risk Likely pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS2515474466 TNNT1 Health Risk Likely pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS2515479055 RIN2 Health Risk Likely pathogenic —
RS2515487726 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2515489381 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515489787 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515490171 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515491013 PLCB4 Health Risk Conflicting classifications of pathogenicity Auriculocondylar syndrome 2, Auriculocondylar syndrome 2
RS2515491207 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2515494062 IL12RB1 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2515498227 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, TNNI3-related disorder
RS2515498269 TNNI3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2515498567 TNNI3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2515498921 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515500031 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515500101 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515503651 TNNI3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2515504362 TNNI3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2515505976 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515506277 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515506445 RIN2 Health Risk Pathogenic —
RS2515506542 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515509700 ZNF341 Health Risk Pathogenic —
RS2515513944 ARFGEF2 Health Risk Pathogenic —
RS2515519487 DNMT3B Health Risk Likely pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS2515520453 ITCH Health Risk Pathogenic Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS2515521686 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2515521782 DNAAF3 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2515521969 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515522322 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Hypoprebetalipoproteinemia
RS2515522711 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515522749 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515523115 DNMT3B Health Risk Likely pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS2515528726 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2515529863 DNAAF3;DNAAF3-AS1;TNNI3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS2515530148 PIGT Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS2515530219 TASP1 Health Risk Likely pathogenic Suleiman-El-Hattab syndrome, Suleiman-El-Hattab syndrome
RS2515535483 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515536377 DNMT3B Health Risk Pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS2515542106 ARFGEF2 Health Risk Likely pathogenic Periventricular heterotopia with microcephaly, autosomal recessive
RS2515543569 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2515543578 CHMP4B Health Risk Likely pathogenic Cataract 31 multiple types, Cataract 31 multiple types
RS2515545698 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2515545899 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2515547820 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia 2, Primary ciliary dyskinesia 2
RS2515547984 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2515548244 ITCH Health Risk Pathogenic Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS2515552360 ASXL1 Health Risk Pathogenic —
RS2515552708 ASXL1 Health Risk Pathogenic Atypical chronic myeloid leukemia, BCR-ABL1 negative
RS2515553570 ASXL1 Health Risk Pathogenic —
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