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
RS2153228310 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228333 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228340 BAP1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2153228345 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153228349 BAP1 Health Risk Pathogenic —
RS2153228352 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153228507 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228515 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228520 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228522 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228535 BAP1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, BAP1-related tumor predisposition syndrome
RS2153228558 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228616 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228628 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153228637 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153228682 BAP1 Health Risk Likely pathogenic Neurodevelopmental disorder, Kury-Isidor syndrome
RS2153228693 BAP1 Health Risk Pathogenic/Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153228694 BAP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153231721 CACNA1C Health Risk Likely pathogenic Timothy syndrome, Timothy syndrome
RS2153272667 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2153275538 NRCAM Health Risk Pathogenic NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
RS2153276539 NEB Health Risk Likely pathogenic Nemaline myopathy 2, See cases
RS2153276574 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153279702 UFSP2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, di rocco type
RS2153283460 SLC25A3 Health Risk Pathogenic —
RS2153287079 SLC25A3 Health Risk Likely pathogenic —
RS2153299187 SLC39A13 Health Risk Likely pathogenic —
RS2153305991 PDE4D Health Risk Likely pathogenic —
RS2153306243 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2153308170 RAPSN Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 2, Congenital myasthenic syndrome
RS2153308410 RAPSN Health Risk Likely pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS2153309050 RAPSN Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2153309143 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2153309845 TMEM126B Health Risk Pathogenic —
RS2153311231 RAPSN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS2153311290 RAPSN Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2153311310 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2153311780 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS2153313250 TMEM126A Health Risk Likely pathogenic —
RS2153320686 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153341328 CNNM4 Health Risk Pathogenic —
RS2153341719 CNNM4 Health Risk Pathogenic —
RS2153344866 PDE4D Health Risk Likely pathogenic —
RS2153349278 CNNM4 Health Risk Pathogenic Jalili syndrome, Jalili syndrome
RS2153351643 CNNM4 Health Risk Likely pathogenic —
RS2153352800 BRCA1 Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2153352893 BRCA1 Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2153353204 BRCA1 Health Risk Pathogenic Carcinoma of colon, Breast-ovarian cancer
RS2153353304 BRCA1 Health Risk Pathogenic —
RS2153353848 AARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS2153353988 AARS2 Health Risk Likely pathogenic —
RS2153354335 AARS2 Health Risk Pathogenic —
RS2153355216 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153355304 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS2153355427 AARS2 Health Risk Likely pathogenic —
RS2153356880 AARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS2153356902 AARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS2153357308 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2153358198 AARS2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2153358441 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2153369022 NRCAM Health Risk Pathogenic NRCAM-related disorder, NRCAM-related disorder
RS2153386052 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153393425 PDE4D Health Risk Conflicting classifications of pathogenicity —
RS2153409815 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2153437998 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153440081 CACNA1C Health Risk Pathogenic/Likely pathogenic Timothy syndrome, Long QT syndrome
RS2153440093 CACNA1C Health Risk Likely pathogenic —
RS2153447342 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2153447885 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153452355 NEB Health Risk Likely pathogenic —
RS2153453236 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153453450 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153456779 SYNE1 Health Risk Likely pathogenic Abnormal central motor function, Abnormal central motor function
RS2153458564 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153465555 SYNE1 Health Risk Pathogenic —
RS2153469119 IKZF1 Health Risk Pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2153475495 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153477560 IKZF1 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2153477674 IKZF1 Health Risk Conflicting classifications of pathogenicity Pancytopenia due to IKZF1 mutations, Pancytopenia due to IKZF1 mutations
RS2153477847 IKZF1 Health Risk Likely pathogenic Pancytopenia due to IKZF1 mutations, Acute lymphoid leukemia
RS2153489310 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153501340 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153501353 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153501416 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153501467 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS2153501643 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS2153501731 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS2153501733 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153501801 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2153501864 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153501869 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153501942 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153501969 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153501973 COL3A1 Health Risk Pathogenic —
RS2153501976 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153502051 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153502094 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS2153502163 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153502168 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2153502271 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
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