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
RS587777721 SCN8A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 13
RS587777722 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS587777723 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS587777724 FAT4 Health Risk Pathogenic Hennekam lymphangiectasia-lymphedema syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS587777725 FAT4 Health Risk Pathogenic Hennekam lymphangiectasia-lymphedema syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS587777726 FAT4 Health Risk Pathogenic Hennekam lymphangiectasia-lymphedema syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS587777727 JAGN1 Health Risk Conflicting classifications of pathogenicity Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
RS587777728 JAGN1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia
RS587777729 JAGN1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia
RS587777730 JAGN1 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia
RS587777731 JAGN1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Severe congenital neutropenia
RS587777732 HNF4A Health Risk Pathogenic Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Hyperinsulinemia
RS587777733 PIGW Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
RS587777734 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS587777735 NOTCH1 Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS587777736 NOTCH1 Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS587777737 GRHL2 Health Risk Likely pathogenic Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome, Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
RS587777738 GRHL2 Health Risk Pathogenic Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome, Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
RS587777739 FEZF1 Health Risk Pathogenic Hypogonadotropic hypogonadism 22 with anosmia, Hypogonadotropic hypogonadism 22 with anosmia
RS587777740 FEZF1 Health Risk Pathogenic Hypogonadotropic hypogonadism 22 with anosmia, Hypogonadotropic hypogonadism 22 with anosmia
RS587777741 ANLN Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8
RS587777742 CACNB2 Health Risk Pathogenic Brugada syndrome 4, Brugada syndrome 4
RS587777743 TRMT10A Health Risk Pathogenic/Likely pathogenic Microcephaly, short stature
RS587777744 TRMT10A Health Risk Pathogenic Microcephaly, short stature
RS587777747 PSAT1 Health Risk Pathogenic PSAT deficiency, Neu-Laxova syndrome 2
RS587777748 FKTN Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS587777749 SPINK5 Health Risk Pathogenic Netherton syndrome, Netherton syndrome
RS587777751 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS587777752 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS587777753 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS587777754 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS587777755 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS587777756 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS587777757 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS587777758 GNRH1 Health Risk Pathogenic Hypogonadotropic hypogonadism 12 with or without anosmia, Hypogonadotropic hypogonadism 12 with or without anosmia
RS587777759 SERPIND1 Health Risk Pathogenic Heparin cofactor II deficiency, Heparin cofactor II deficiency
RS587777760 SERPIND1 Health Risk Pathogenic Heparin cofactor II deficiency, Heparin cofactor II deficiency
RS587777761 FGA Health Risk Pathogenic Familial visceral amyloidosis, Ostertag type
RS587777762 FGA Health Risk Pathogenic Familial visceral amyloidosis, Ostertag type
RS587777763 CARD14 Health Risk Pathogenic Psoriasis 2, Psoriasis 2
RS587777769 AMPD2 Health Risk Pathogenic Hereditary spastic paraplegia 63, Hereditary spastic paraplegia 63
RS587777770 PHGDH Health Risk Pathogenic/Likely pathogenic Neu-Laxova syndrome 1, PHGDH deficiency
RS587777771 ATP1A3 Health Risk Pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Inborn genetic diseases
RS587777772 NADK2 Health Risk Likely pathogenic Progressive encephalopathy with leukodystrophy due to DECR deficiency, Progressive encephalopathy with leukodystrophy due to DECR deficiency
RS587777774 PHGDH Health Risk Pathogenic Neu-Laxova syndrome 1, Neu-Laxova syndrome 1
RS587777776 PSAT1 Health Risk Pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS587777777 PSAT1 Health Risk Pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS587777778 PSAT1 Health Risk Conflicting classifications of pathogenicity Neu-Laxova syndrome 2, PSAT1-related disorder
RS587777780 ODAD3 Health Risk Pathogenic Primary ciliary dyskinesia 30, Kartagener syndrome
RS587777781 SYT2 Health Risk Pathogenic Congenital myasthenic syndrome 7, Congenital myasthenic syndrome 7
RS587777782 SYT2 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 7, Inborn genetic diseases
RS587777783 COX6A1 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate D, Charcot-Marie-Tooth disease recessive intermediate D
RS587777784 COA8 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 17
RS587777785 COA8 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 17
RS587777786 COA8 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 17
RS587777787 COA8 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 17
RS587777788 ATP5F1A Health Risk Pathogenic Combined oxidative phosphorylation deficiency 22, Combined oxidative phosphorylation deficiency 22
RS587777789 TFG Health Risk Pathogenic/Likely pathogenic Hereditary motor and sensory neuropathy, Okinawa type
RS587777790 PIK3CA Health Risk Pathogenic Cowden syndrome 5, Angioosteohypertrophic syndrome
RS587777791 PIK3CA Health Risk Pathogenic Cowden syndrome 5, Cowden syndrome 5
RS587777792 PIK3CA Health Risk Pathogenic Cowden syndrome 5, Cowden syndrome 5
RS587777793 PIK3CA Health Risk Pathogenic Cowden syndrome 5, Cowden syndrome 5
RS587777794 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome 5, Cowden syndrome 5
RS587777796 PIK3CA Health Risk Pathogenic Cowden syndrome 5, Cowden syndrome 5
RS587777797 CRPPA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U, Autosomal recessive limb-girdle muscular dystrophy type 2U
RS587777798 CRPPA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS587777801 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS587777802 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS587777803 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS587777804 MKS1 Health Risk Pathogenic Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 13
RS587777805 ARL6 Health Risk Likely pathogenic Retinitis pigmentosa 55, Autosomal recessive retinitis pigmentosa
RS587777806 TTC8 Health Risk Pathogenic Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 8
RS587777807 TTC8 Health Risk Pathogenic Bardet-Biedl syndrome 8, Bardet-Biedl syndrome
RS587777808 TTC8 Health Risk Pathogenic Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 8
RS587777809 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinal dystrophy
RS587777810 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS587777811 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS587777812 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS587777813 FKTN Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS587777814 FKTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Autosomal recessive limb-girdle muscular dystrophy type 2M
RS587777815 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS587777816 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS587777817 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS587777818 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS587777819 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS587777820 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS587777821 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS587777822 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS587777823 FKRP Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS587777824 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS587777825 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS587777826 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-biedl syndrome 1/2, digenic
RS587777827 MKKS Health Risk Pathogenic Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome
RS587777828 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome
RS587777829 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS587777830 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS587777834 PROKR2 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 3 with or without anosmia, Inborn genetic diseases
RS587777835 KISS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 13 with or without anosmia, Hypogonadotropic hypogonadism 13 with or without anosmia
RS587777836 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS587777837 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
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