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
RS2105983330 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2105984736 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2105985030 ATIC Health Risk Conflicting classifications of pathogenicity AICA-ribosiduria, AICA-ribosiduria
RS2105985080 HIBCH Health Risk Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS2105986664 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2105986813 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2105987094 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2105987421 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2105987749 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2105987971 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2105988065 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2105990789 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2105992974 ABCA12 Health Risk Likely pathogenic Abnormality of the skin, Autosomal recessive congenital ichthyosis 4A
RS2105996078 ABCB11 Health Risk Likely pathogenic —
RS2105998730 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis
RS2105999102 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2105999112 ALS2 Health Risk Pathogenic —
RS2106001462 ALS2 Health Risk Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2106002050 BMPR2 Health Risk Likely pathogenic Pulmonary arterial hypertension, Drug- or toxin-induced pulmonary arterial hypertension
RS2106002172 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2106003122 BMPR2 Health Risk Pathogenic Pulmonary venoocclusive disease 1, Pulmonary venoocclusive disease 1
RS2106003228 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2106003241 BMPR2 Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS2106003724 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2106004648 ABCB11 Health Risk Likely pathogenic —
RS2106004684 ABCB11 Health Risk Pathogenic —
RS2106004956 ABCB11 Health Risk Pathogenic —
RS2106005174 ABCB11 Health Risk Pathogenic —
RS2106005949 ALS2 Health Risk Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2106005994 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2106008336 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2106008354 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2106008473 BMPR2 Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS2106009582 ALS2 Health Risk Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2106010718 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS2106010917 ABCB11 Health Risk Pathogenic —
RS2106011673 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS2106011709 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2106011732 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS2106012637 ALS2 Health Risk Pathogenic Amyotrophic lateral sclerosis type 2, juvenile
RS2106013953 ABCB11 Health Risk Pathogenic —
RS2106014776 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2106015063 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2106015104 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2106016170 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS2106016227 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2106016293 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2106016375 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS2106018181 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2106018205 WNT10A Health Risk Pathogenic/Likely pathogenic Tooth agenesis, selective
RS2106018209 BMPR2 Health Risk Pathogenic —
RS2106018239 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS2106018257 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2106018397 WNT10A Health Risk Pathogenic/Likely pathogenic Tooth agenesis, selective
RS2106018559 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS2106018668 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS2106018717 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2106019982 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2106020004 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2106020684 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2106020733 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2106020750 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106021020 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106021114 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106023727 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2
RS2106028466 OBSL1 Health Risk Likely pathogenic 3M syndrome 2, 3M syndrome 2
RS2106029186 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2106029249 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2106030892 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2106033603 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2106037172 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2106037184 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2106038518 BARD1 Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2106040403 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2106042103 BMPR2 Health Risk Likely pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2106042155 BMPR2 Health Risk Likely pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2106042216 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS2106042229 BMPR2 Health Risk Pathogenic Pulmonary arterial hypertension, Idiopathic and/or familial pulmonary arterial hypertension
RS2106047848 ABCB11 Health Risk Pathogenic —
RS2106050388 SMARCAL1 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2106054066 ABCA12 Health Risk Likely pathogenic See cases, See cases
RS2106055125 ABCB11 Health Risk Likely pathogenic —
RS2106055226 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, Schimke immuno-osseous dysplasia
RS2106071765 ALS2 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 2, juvenile
RS2106071898 LOC126806529;PAX3 Health Risk Pathogenic —
RS2106072248 PAX3 Health Risk Pathogenic —
RS2106073127 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2106074168 PAX3 Health Risk Pathogenic —
RS2106074229 ALS2 Health Risk Pathogenic/Likely pathogenic Abnormal central motor function, Infantile-onset ascending hereditary spastic paralysis
RS2106074302 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2106074565 PAX3 Health Risk Pathogenic Waardenburg syndrome type 3, Waardenburg syndrome type 3
RS2106074603 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS2106075317 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2106076108 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS2106076135 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Gastric cancer
RS2106076147 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106076340 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS2106076377 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106076564 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106076720 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
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