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
RS1555743845 ASXL3 Health Risk Likely pathogenic —
RS1555743942 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1555743954 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1555744039 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1555744086 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1555744175 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1555744178 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, ASXL3-related disorder
RS1555744217 ASXL3 Health Risk Pathogenic —
RS1555744253 LTBP4 Health Risk Pathogenic —
RS1555744282 ASXL3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1555744396 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1555744805 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555744812 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555744989 ASXL3 Health Risk Likely pathogenic —
RS1555745158 CACNA1A;LOC126862864 Health Risk Likely pathogenic —
RS1555745207 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555745215 LAMA3 Health Risk Pathogenic —
RS1555745263 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555745317 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555745461 CACNA1A Health Risk Pathogenic/Likely pathogenic CACNA1A-associated disorders, Delayed gross motor development
RS1555745467 CACNA1A Health Risk Pathogenic/Likely pathogenic CACNA1A-related disorder, Episodic ataxia type 2
RS1555745616 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1555745989 ATP5F1D Health Risk Pathogenic Mitochondrial disease, Mitochondrial complex V (ATP synthase) deficiency
RS1555746079 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555746859 INSR Health Risk Conflicting classifications of pathogenicity Rabson-Mendenhall syndrome, Rabson-Mendenhall syndrome
RS1555747776 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS1555748498 PNPLA6 Health Risk Pathogenic —
RS1555748534 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS1555748556 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS1555748926 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS1555748940 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS1555749239 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1555749369 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1555749434 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1555749683 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1555749853 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1555749927 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1555750535 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1555750542 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1555750580 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1555750642 ERF Health Risk Likely pathogenic —
RS1555750721 ERF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555750741 ERF Health Risk Pathogenic TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS1555750795 ERF Health Risk Pathogenic TWIST1-related craniosynostosis, Inborn genetic diseases
RS1555750816 ERF Health Risk Pathogenic TWIST1-related craniosynostosis, Lambdoidal craniosynostosis
RS1555751089 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1555751109 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1555751240 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1555751336 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS1555751379 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1555751423 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555751482 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555751529 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555751597 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1555751762 CACNA1A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 42
RS1555751995 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1555752083 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555752113 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555752859 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1555752975 CACNA1A Health Risk Likely pathogenic —
RS1555753042 CACNA1A Health Risk Pathogenic —
RS1555753569 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1555753627 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555753680 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555753690 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555753732 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555753773 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555754177 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555754185 TUBB4A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1555754293 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1555754450 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555754655 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Thyroid cancer
RS1555754744 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1555755067 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1555755242 TGFB1 Health Risk Likely pathogenic Inflammatory bowel disease, immunodeficiency
RS1555755308 TGFB1 Health Risk Likely pathogenic Encephalopathy, IL10-related early-onset inflammatory bowel disease
RS1555755878 CACNA1A Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 6
RS1555755909 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1555755926 CACNA1A Health Risk Pathogenic —
RS1555755929 CACNA1A Health Risk Pathogenic —
RS1555755977 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS1555756091 CACNA1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555756130 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS1555756161 CACNA1A Health Risk Pathogenic —
RS1555756257 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1555756326 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1555756461 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1555756737 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS1555757432 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS1555757523 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1555757537 CACNA1A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 42
RS1555757738 SMARCA4 Health Risk Pathogenic/Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1555758035 CRLF1 Health Risk Pathogenic Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
RS1555758163 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1555758842 CACNA1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555758856 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1555759066 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1555759089 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1555760738 CALR Health Risk Pathogenic/Likely pathogenic Primary myelofibrosis, Thrombocythemia 1
RS1555761603 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
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