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
RS2518060619 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518060669 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2518061060 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518061118 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518061226 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518061871 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2518061916 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2518062993 HPS4 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518068499 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2518073461 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518073518 DYRK1A Health Risk Pathogenic Inborn genetic diseases, DYRK1A-related intellectual disability syndrome
RS2518073567 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518073750 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518074058 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518074532 DYRK1A Health Risk Likely pathogenic —
RS2518074711 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518077085 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518077276 PCNT Health Risk Pathogenic —
RS2518077360 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2518077369 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518079511 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518083737 PCNT Health Risk Pathogenic —
RS2518083790 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2518087570 ITSN1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2518095890 DYRK1A Health Risk Pathogenic —
RS2518096175 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518096229 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS2518097031 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518097345 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518099526 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2518099761 PCNT Health Risk Pathogenic —
RS2518099852 PCNT Health Risk Pathogenic —
RS2518100114 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS2518100359 MCAT Health Risk Pathogenic Optic atrophy 15, Optic atrophy 15
RS2518107452 MCAT Health Risk Pathogenic Optic atrophy 15, Acute myeloid leukemia
RS2518115346 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2518115992 EP300 Health Risk Likely pathogenic Menke-Hennekam syndrome 2, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2518116633 EP300 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2518116985 PCNT Health Risk Pathogenic —
RS2518117829 PCNT Health Risk Likely pathogenic —
RS2518120850 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518125985 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2518126045 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518126061 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518126169 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2518126792 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518127154 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518127277 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518127537 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518127641 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518127840 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518127988 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518128053 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518128076 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518128360 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518128379 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518128693 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2518128742 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518129244 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518129392 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2518129669 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518129977 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518130184 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518130804 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS2518131006 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2518131054 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2518131420 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518131755 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518131926 TRMU Health Risk Pathogenic/Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS2518131949 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518131963 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518132021 TRMU Health Risk Pathogenic —
RS2518132100 CACNA1C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, language delay
RS2518132441 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518132538 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518132615 TRMU Health Risk Likely pathogenic TRMU-related disorder, Aminoglycoside-induced deafness
RS2518132619 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518132704 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518132799 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518133313 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial prostate cancer
RS2518133517 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518133720 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2518134133 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518134467 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518135070 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518135196 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2518135447 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518135680 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2518136412 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2518136497 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2518136516 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2518137990 CNOT3 Health Risk Pathogenic Intellectual developmental disorder with speech delay, autism
RS2518141380 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2518141405 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2518143785 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2518144937 EP300 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2518145912 PI4KA Health Risk Likely pathogenic PI4KA-related disorder, PI4KA-related disorder
RS2518150291 TRMU Health Risk Pathogenic —
RS2518150435 TRMU Health Risk Likely pathogenic —
RS2518152935 PCNT Health Risk Likely pathogenic —
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