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
RS1555736565 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1555736608 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555736791 OPA3 Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS1555736793 OPA3 Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3
RS1555736803 OPA3 Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3
RS1555736814 OPA3 Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3
RS1555737113 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1555737439 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1555737444 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555737473 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555737480 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1555737509 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555737629 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555737779 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555737790 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1555737814 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1555737824 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1555737830 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1555738103 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS1555738149 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1555738200 CACNA1A Health Risk Likely pathogenic —
RS1555738201 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS1555738204 FKRP Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS1555738205 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1555738219 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1555738245 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1555738311 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1555738319 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1555738369 CACNA1A Health Risk Pathogenic Spinocerebellar ataxia type 6, Episodic ataxia type 2
RS1555738456 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1555738475 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1555738483 FKRP Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1555738502 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS1555738568 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1555738608 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1555738651 FKRP Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS1555738656 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1555738667 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1555738675 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1555738683 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1555738686 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS1555738723 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1555738724 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1555738736 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1555738753 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy type B5
RS1555738763 PSENEN Health Risk Pathogenic Acne inversa, familial
RS1555738764 FKRP Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS1555738823 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1555738836 PSENEN Health Risk Pathogenic Acne inversa, familial
RS1555738837 PSENEN Health Risk Pathogenic Acne inversa, familial
RS1555738863 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1555738874 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1555738883 FKRP Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS1555738899 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1555738903 PSENEN Health Risk Pathogenic Acne inversa, familial
RS1555738906 PSENEN Health Risk Pathogenic Acne inversa, familial
RS1555738943 PSENEN Health Risk Pathogenic Acne inversa, familial
RS1555739020 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS1555739041 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1555739119 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1555739280 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy
RS1555739333 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1555740118 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1555740123 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS1555740341 PRR12 Health Risk Likely pathogenic —
RS1555740394 PRR12 Health Risk Pathogenic Abnormality of vision, Iris coloboma
RS1555740650 PRR12 Health Risk Pathogenic Abnormality of vision, Iris coloboma
RS1555740717 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555740805 CACNA1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Episodic ataxia type 2
RS1555740945 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555740963 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS1555741188 ASXL3 Health Risk Pathogenic —
RS1555741462 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS1555741545 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1555741548 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1555741822 MCOLN1 Health Risk Pathogenic/Likely pathogenic Mucolipidosis type IV, Lisch epithelial corneal dystrophy
RS1555741826 PRR12 Health Risk Pathogenic Abnormality of vision, Iris coloboma
RS1555741948 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1555741967 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1555742010 ASXL3 Health Risk Pathogenic —
RS1555742087 ASXL3 Health Risk Pathogenic Inborn genetic diseases, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1555742114 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1555742120 MCOLN1 Health Risk Pathogenic —
RS1555742148 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
RS1555742162 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1555742167 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
RS1555742212 ASXL3 Health Risk Pathogenic —
RS1555742213 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1555742221 CEBPA Health Risk Pathogenic Inborn genetic diseases, Acute myeloid leukemia
RS1555742232 ASXL3 Health Risk Pathogenic —
RS1555742295 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1555742328 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1555742333 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
RS1555742500 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Inborn genetic diseases
RS1555742780 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1555743003 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Inborn genetic diseases
RS1555743005 ASXL3 Health Risk Pathogenic Inborn genetic diseases, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1555743321 JAK3 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS1555743454 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555743457 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
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