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
RS1555538571 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555538740 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1555538825 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555539013 CARMIL2 Health Risk Likely pathogenic —
RS1555539105 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555539157 AARS1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 29
RS1555539322 MYO15A Health Risk Pathogenic —
RS1555539335 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1555539827 MYO15A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1555539857 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555539897 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555539903 ASPA Health Risk Likely pathogenic Canavan Disease, Familial Form
RS1555540048 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555540076 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555540674 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555540679 ASPA Health Risk Likely pathogenic —
RS1555540896 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1555541278 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555541291 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555541304 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555541483 SLC13A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 25
RS1555541486 SLC13A5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 25
RS1555542415 AARS1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease axonal type 2N
RS1555542860 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555542889 FA2H Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1555543296 MYO15A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555543432 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1555543836 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1555544187 MYO15A Health Risk Pathogenic —
RS1555545033 THRA Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Congenital nongoitrous hypothyroidism 6
RS1555545225 MYO15A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555545421 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555545517 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555545553 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555545592 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555546096 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1555546224 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1555546315 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1555546465 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
RS1555546699 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1555546717 MYO15A Health Risk Likely pathogenic —
RS1555546765 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS1555546796 ARHGEF15 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1555546858 CHRNE Health Risk Likely pathogenic —
RS1555547003 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1555547008 CRYBA1 Health Risk Likely pathogenic Cataract 10 multiple types, Cataract 10 multiple types
RS1555547112 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1555547215 MYO15A Health Risk Conflicting classifications of pathogenicity Congenital sensorineural hearing impairment, Hearing loss
RS1555547474 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555547524 MYO15A Health Risk Pathogenic —
RS1555547935 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555547955 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555548428 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555548512 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555548632 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555548670 KRT10 Health Risk Pathogenic —
RS1555548680 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS1555549041 GP1BA Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS1555549451 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555549535 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555549674 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS1555549754 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS1555549755 HSF4 Health Risk Pathogenic Cataract 5 multiple types, Cataract 5 multiple types
RS1555549769 PEX12 Health Risk Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS1555549841 PEX12 Health Risk Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS1555549855 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS1555549869 PEX12 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS1555549876 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS1555549902 PEX12 Health Risk Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS1555549909 PEX12 Health Risk Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS1555549923 PEX12 Health Risk Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS1555550025 PRPF8 Health Risk Likely pathogenic —
RS1555550045 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1555550180 PRPF8 Health Risk Pathogenic —
RS1555550617 PRPF8 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 13, Retinitis pigmentosa
RS1555550717 TNFRSF13B Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable
RS1555550982 PRPF8 Health Risk Pathogenic —
RS1555551460 PRPF8 Health Risk Likely pathogenic —
RS1555551738 PIEZO1 Health Risk Likely pathogenic —
RS1555552004 CHRNB1 Health Risk Pathogenic —
RS1555552006 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555552070 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS1555552506 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555554139 MYH11 Health Risk Conflicting classifications of pathogenicity Pulmonic stenosis, Familial thoracic aortic aneurysm and aortic dissection
RS1555554788 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555556099 PITPNM3 Health Risk Pathogenic Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
RS1555556175 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555558034 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1555558078 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1555558099 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS1555558116 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Inborn genetic diseases
RS1555558169 SCAPER Health Risk Pathogenic Retinitis pigmentosa, Intellectual developmental disorder and retinitis pigmentosa
RS1555558553 CACNA1G Health Risk Pathogenic Spinocerebellar ataxia 42, early-onset
RS1555558690 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555558920 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1555559279 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1555559733 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1555559741 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1555559991 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1555560128 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
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