SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS80338726 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency
RS80338727 SLC25A13 Health Risk Pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Citrin deficiency
RS80338729 SLC25A13 Health Risk Pathogenic/Likely pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia
RS80338731 PRPS1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked recessive 5, Charcot-Marie-Tooth disease X-linked recessive 5
RS80338732 PRPS1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease X-linked recessive 5, Charcot-Marie-Tooth Neuropathy X
RS80338734 GAMT Health Risk Pathogenic/Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS80338735 GAMT Health Risk Pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS80338736 GAMT Health Risk Pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS80338737 GATM Health Risk Pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS80338738 GATM Health Risk Pathogenic Arginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1
RS80338739 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Inborn genetic diseases
RS80338740 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS80338741 DCN Health Risk Pathogenic Congenital stromal corneal dystrophy, Congenital stromal corneal dystrophy
RS80338742 DCN Health Risk Pathogenic Congenital stromal corneal dystrophy, Congenital stromal corneal dystrophy
RS80338744 LRP2 Health Risk Pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS80338745 LRP2 Health Risk Pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS80338747 LRP2 Health Risk Pathogenic/Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS80338748 LRP2 Health Risk Pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS80338749 LRP2 Health Risk Pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS80338751 LRP2 Health Risk Pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS80338752 LRP2 Health Risk Pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS80338753 LRP2 Health Risk Pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS80338754 LRP2 Health Risk Pathogenic/Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS80338755 ITGB4 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, See cases
RS80338756 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex, Ogna type
RS80338758 MED12 Health Risk Pathogenic/Likely pathogenic FG syndrome 1, 6 conditions
RS80338759 MED12 Health Risk Pathogenic/Likely pathogenic X-linked intellectual disability with marfanoid habitus, FG syndrome 1
RS80338760 SEPTIN9 Health Risk Pathogenic Amyotrophic neuralgia, Amyotrophic neuralgia
RS80338761 SEPTIN9 Health Risk Pathogenic Amyotrophic neuralgia, Inborn genetic diseases
RS80338762 SEPTIN9 Health Risk Pathogenic Amyotrophic neuralgia, Amyotrophic neuralgia
RS80338763 PMP22 Health Risk Pathogenic Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease type 2E
RS80338764 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS80338765 FBLN5 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS80338766 FBLN5 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS80338767 FBLN5 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS80338769 SLC46A1 Health Risk Pathogenic Congenital defect of folate absorption, Congenital defect of folate absorption
RS80338770 SLC46A1 Health Risk Pathogenic Congenital defect of folate absorption, Congenital defect of folate absorption
RS80338772 SLC46A1 Health Risk Pathogenic Congenital defect of folate absorption, Congenital defect of folate absorption
RS80338773 SLC46A1 Health Risk Pathogenic Congenital defect of folate absorption, Congenital defect of folate absorption
RS80338774 SLC46A1 Health Risk Likely pathogenic Congenital defect of folate absorption, Congenital defect of folate absorption
RS80338775 SLC46A1 Health Risk Pathogenic Congenital defect of folate absorption, Inborn genetic diseases
RS80338777 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS80338778 CACNA1S Health Risk Pathogenic/Likely pathogenic Hypokalemic periodic paralysis, type 1
RS80338779 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS80338782 CACNA1S Health Risk Likely pathogenic Malignant hyperthermia of anesthesia, Congenital myopathy 18
RS80338784 SCN4A Health Risk Pathogenic Hypokalemic periodic paralysis, type 2
RS80338785 SCN4A Health Risk Pathogenic Hypokalemic periodic paralysis, type 2
RS80338788 SCN4A Health Risk Pathogenic Hypokalemic periodic paralysis, type 2
RS80338789 SCN4A Health Risk Pathogenic Hypokalemic periodic paralysis, type 2
RS80338792 SCN4A Health Risk Pathogenic Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg
RS80338794 SLC17A5 Health Risk Pathogenic Salla disease, Sialic acid storage disease
RS80338795 SLC17A5 Health Risk Pathogenic Salla disease, Sialic acid storage disease
RS80338796 RAF1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 5, LEOPARD syndrome 2
RS80338797 RAF1 Health Risk Likely pathogenic Noonan syndrome 5, LEOPARD syndrome 2
RS80338799 RAF1 Health Risk Pathogenic Noonan syndrome 5, RASopathy
RS80338800 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Limb-girdle muscular dystrophy
RS80338801 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS80338802 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS80338803 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature
RS80338804 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS80338805 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS80338806 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS80338807 LPIN2 Health Risk Pathogenic/Likely pathogenic Majeed syndrome, Autoinflammatory syndrome
RS80338808 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS80338815 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, adult type
RS80338819 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS80338820 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, juvenile type
RS80338823 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, late infantile form
RS80338826 MYH9 Health Risk Pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MYH9-related disorder
RS80338827 MYH9 Health Risk Pathogenic/Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MYH9-related disorder
RS80338828 MYH9 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS80338829 MYH9 Health Risk Pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MYH9-related disorder
RS80338830 MYH9 Health Risk Pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS80338831 MYH9 Health Risk Pathogenic/Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS80338834 MYH9 Health Risk Pathogenic/Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MYH9-related disorder
RS80338835 MYH9 Health Risk Pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MYH9-related disorder
RS80338836 PTPN11 Health Risk Pathogenic Noonan syndrome 1, RASopathy
RS80338840 FLNA Health Risk Pathogenic Intestinal pseudoobstruction, neuronal
RS80338841 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS80338842 SDHD Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 1, Hereditary pheochromocytoma and paraganglioma
RS80338843 SDHD Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 1, Hereditary pheochromocytoma and paraganglioma
RS80338844 SDHD Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 1
RS80338845 SDHD Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 1, Hereditary pheochromocytoma and paraganglioma
RS80338846 SDHD Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS80338847 SDHD Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 1, Hereditary pheochromocytoma and paraganglioma
RS80338848 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS80338849 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS80338850 B3GLCT Health Risk Pathogenic Peters plus syndrome, Peters plus syndrome
RS80338851 B3GLCT Health Risk Pathogenic Peters plus syndrome, B3GLCT-related disorder
RS80338853 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Abnormal brain morphology
RS80338855 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS80338856 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS80338857 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS80338858 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS80338859 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS80338860 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Microcephaly
RS80338862 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS80338864 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS80338865 WASHC5 Health Risk Pathogenic Hereditary spastic paraplegia 8, Hereditary spastic paraplegia 8
RS80338866 WASHC5 Health Risk Pathogenic Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
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