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
RS2512983397 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512987953 MUC16 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2513013293 NFIX Health Risk Likely pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS2513031029 CACNA1A Health Risk Pathogenic/Likely pathogenic Global developmental delay, Episodic ataxia type 2
RS2513031100 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2513031267 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2513031829 NFIX Health Risk Likely pathogenic —
RS2513034053 DOCK6 Health Risk Pathogenic —
RS2513039217 DOCK6 Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome 2, DOCK6-related disorder
RS2513041499 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Spinocerebellar ataxia type 6
RS2513041740 CC2D1A Health Risk Likely pathogenic —
RS2513043216 ADGRL1 Health Risk Likely pathogenic Developmental delay, behavioral abnormalities
RS2513049085 CACNA1A Health Risk Likely pathogenic —
RS2513049302 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS2513049322 CACNA1A Health Risk Pathogenic —
RS2513055080 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS2513056055 CACNA1A Health Risk Pathogenic —
RS2513061120 CC2D1A Health Risk Pathogenic —
RS2513068920 TRMT1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 68
RS2513071407 CC2D1A Health Risk Likely pathogenic —
RS2513071430 CC2D1A Health Risk Pathogenic —
RS2513071545 CC2D1A Health Risk Pathogenic —
RS2513071572 CC2D1A Health Risk Pathogenic —
RS2513075471 UNC13A Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS2513086957 TRMT1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2513091106 RTTN Health Risk Likely pathogenic —
RS2513093007 CC2D1A Health Risk Pathogenic —
RS2513093326 CC2D1A Health Risk Pathogenic —
RS2513093391 CC2D1A Health Risk Likely pathogenic —
RS2513094170 CC2D1A Health Risk Pathogenic —
RS2513094283 CC2D1A Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 3
RS2513099410 CC2D1A Health Risk Likely pathogenic —
RS2513105444 CC2D1A Health Risk Likely pathogenic —
RS2513105453 CC2D1A Health Risk Likely pathogenic —
RS2513108777 TRMT1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 68
RS2513116527 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2513118015 CC2D1A Health Risk Pathogenic —
RS2513119050 CC2D1A Health Risk Pathogenic —
RS2513124551 MUC16 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2513131323 CC2D1A Health Risk Pathogenic —
RS2513133401 CC2D1A Health Risk Pathogenic —
RS2513137623 CC2D1A Health Risk Pathogenic —
RS2513147217 CC2D1A Health Risk Likely pathogenic Intellectual disability, autosomal recessive 3
RS2513150660 CC2D1A Health Risk Likely pathogenic Intellectual disability, autosomal recessive 3
RS2513151126 CC2D1A Health Risk Likely pathogenic —
RS2513151702 CACNA1A Health Risk Conflicting classifications of pathogenicity —
RS2513151718 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2513151774 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2513151820 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2513152460 CACNA1A Health Risk Likely pathogenic Migraine, familial hemiplegic
RS2513154138 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2513156379 DOCK6 Health Risk Pathogenic —
RS2513161109 DOCK6 Health Risk Pathogenic —
RS2513175466 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS2513175615 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2513188826 MAST3 Health Risk Pathogenic Developmental and epileptic encephalopathy 108, Developmental and epileptic encephalopathy 108
RS2513193892 MAST3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 108, Inborn genetic diseases
RS2513200325 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2513201032 GTPBP3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2513204411 GTPBP3 Health Risk Pathogenic —
RS2513207214 GTPBP3 Health Risk Pathogenic —
RS2513207346 GTPBP3 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
RS2513214903 DOCK6 Health Risk Pathogenic —
RS2513228819 PLVAP Health Risk Likely pathogenic Diarrhea 10, protein-losing enteropathy type
RS2513229473 PLVAP Health Risk Likely pathogenic See cases, See cases
RS2513229533 PLVAP Health Risk Pathogenic —
RS2513247583 CPAMD8 Health Risk Likely pathogenic Abnormal anterior eye segment morphology, Abnormal anterior eye segment morphology
RS2513280986 C19orf12 Health Risk Pathogenic Neurodegeneration with brain iron accumulation, C19orf12-related disorder
RS2513281713 C19orf12 Health Risk Likely pathogenic —
RS2513299932 C19orf12 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43
RS2513300586 C19orf12 Health Risk Likely pathogenic Hereditary spastic paraplegia 43, Hereditary spastic paraplegia 43
RS2513305937 KMT2B Health Risk Pathogenic —
RS2513311644 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS2513315712 KMT2B Health Risk Pathogenic —
RS2513316153 KMT2B Health Risk Pathogenic —
RS2513317148 KMT2B Health Risk Pathogenic —
RS2513318484 KMT2B Health Risk Pathogenic —
RS2513318630 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS2513320717 LGI4 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 1, neurogenic
RS2513320923 KMT2B Health Risk Likely pathogenic —
RS2513322968 KMT2B Health Risk Pathogenic —
RS2513323502 KMT2B Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 68
RS2513328286 CEBPA Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2513328365 CEBPA Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2513328406 CEBPA Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2513328486 CEBPA Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2513329489 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS2513330090 LGI4 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 1, neurogenic
RS2513330269 KMT2B Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2513330332 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS2513331483 CEBPA Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2513332000 CEBPA Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2513332280 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2513332781 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2513332790 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2513332810 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2513332961 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2513333325 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS2513333606 DNM2 Health Risk Likely pathogenic Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy
RS2513336258 KMT2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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