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
RS886040968 SLC12A2 Health Risk Likely pathogenic Infant onset multiple organ failure, Infant onset multiple organ failure
RS886040969 NOD2 Health Risk Pathogenic Behcet disease, Behcet disease
RS886040971 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS886040972 DEAF1 Health Risk Pathogenic/Likely pathogenic Intellectual disability-epilepsy-extrapyramidal syndrome, Intellectual disability-epilepsy-extrapyramidal syndrome
RS886040973 COQ4 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS886040974 C1S Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 2
RS886040975 C1S Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 2
RS886040976 EBF3 Health Risk Likely pathogenic Oromandibular-limb hypogenesis spectrum, Oromandibular-limb hypogenesis spectrum
RS886040977 LRP5 Health Risk Likely pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS886040978 CHD7 Health Risk Pathogenic CHARGE syndrome, CHD7-related disorder
RS886040980 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886040981 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886040982 CHD7 Health Risk Pathogenic CHARGE syndrome, CHD7-related disorder
RS886040983 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886040984 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886040985 CHD7 Health Risk Pathogenic CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS886040986 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886040987 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886040988 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, Inborn genetic diseases
RS886040989 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886040990 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886040991 CHD7 Health Risk Pathogenic CHARGE syndrome, CHD7-related disorder
RS886040992 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886040994 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886040995 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886040996 CHD7 Health Risk Pathogenic CHARGE syndrome, CHD7-related CHARGE syndrome
RS886040997 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886040998 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886041000 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886041001 ERF Health Risk Pathogenic Chitayat syndrome, Inborn genetic diseases
RS886041002 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886041003 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS886041004 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS886041005 EDAR Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS886041007 TUBB4A Health Risk Pathogenic Hypomyelinating leukodystrophy 6, Leukodystrophy
RS886041008 TUBB4A Health Risk Likely pathogenic Torsion dystonia 4, Hypomyelinating leukodystrophy 6
RS886041010 TUBB4A Health Risk Pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS886041011 TUBB4A Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS886041013 TUBB4A Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS886041015 TUBB4A Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS886041018 TUBB4A Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS886041019 TUBB4A Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS886041020 TUBB4A Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS886041021 TUBB4A Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Torsion dystonia 4
RS886041022 TUBB4A Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Torsion dystonia 4
RS886041023 SUN5 Health Risk Pathogenic Spermatogenic failure 16, Spermatogenic failure 16
RS886041024 SUN5 Health Risk Pathogenic Spermatogenic failure 16, Spermatogenic failure 16
RS886041025 SUN5 Health Risk Pathogenic Spermatogenic failure 16, Spermatogenic failure 16
RS886041027 SEC63 Health Risk Pathogenic Polycystic liver disease 2, Polycystic liver disease 2
RS886041028 SEC63 Health Risk Pathogenic Polycystic liver disease 2, Polycystic liver disease 2
RS886041030 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS886041031 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS886041032 IL2RA Health Risk Pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS886041033 POFUT1 Health Risk Pathogenic Dowling-Degos disease 2, Dowling-Degos disease 2
RS886041034 SZT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 18
RS886041035 KIF1C Health Risk Likely pathogenic Spastic ataxia 2, Hereditary spastic paraplegia
RS886041036 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, IKBKB-related disorder
RS886041037 IL2RA Health Risk Pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS886041038 IL2RA Health Risk Pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS886041039 RAX2 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 11, Retinal dystrophy
RS886041040 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinal dystrophy
RS886041042 SMARCA2 Health Risk Likely pathogenic —
RS886041043 CARMIL2 Health Risk Pathogenic Combined immunodeficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS886041044 CARMIL2 Health Risk Pathogenic Combined immunodeficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS886041045 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS886041046 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS886041048 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS886041049 MAP3K1 Health Risk Likely pathogenic 46, XY sex reversal 6
RS886041050 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS886041051 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS886041052 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS886041053 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS886041054 GNB5 Health Risk Pathogenic Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome
RS886041055 GNB5 Health Risk Likely pathogenic Gnb5-related intellectual disability-cardiac arrhythmia syndrome, GNB5-related disorder
RS886041056 GLDN Health Risk Pathogenic Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
RS886041057 GLDN Health Risk Pathogenic Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
RS886041058 MBOAT7 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 57
RS886041059 MBOAT7 Health Risk Pathogenic Intellectual disability, autosomal recessive 57
RS886041060 MBOAT7 Health Risk Pathogenic Intellectual disability, autosomal recessive 57
RS886041061 MBOAT7 Health Risk Pathogenic Intellectual disability, autosomal recessive 57
RS886041062 NAXE Health Risk Conflicting classifications of pathogenicity Encephalopathy, progressive
RS886041063 NAXE Health Risk Pathogenic Encephalopathy, progressive
RS886041064 NAXE Health Risk Pathogenic Encephalopathy, progressive
RS886041065 ASXL2 Health Risk Pathogenic Shashi-Pena syndrome, Shashi-Pena syndrome
RS886041066 ASXL2 Health Risk Pathogenic Shashi-Pena syndrome, Shashi-Pena syndrome
RS886041067 ASXL2 Health Risk Pathogenic Shashi-Pena syndrome, Shashi-Pena syndrome
RS886041068 ASXL2 Health Risk Pathogenic Shashi-Pena syndrome, Shashi-Pena syndrome
RS886041069 ASXL2 Health Risk Pathogenic Shashi-Pena syndrome, Shashi-Pena syndrome
RS886041070 ASXL2 Health Risk Pathogenic Shashi-Pena syndrome, Shashi-Pena syndrome
RS886041075 SCARB2 Health Risk Pathogenic Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy
RS886041076 SCARB2 Health Risk Pathogenic Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy
RS886041077 SCARB2 Health Risk Pathogenic Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome
RS886041078 SCARB2 Health Risk Pathogenic Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy
RS886041080 SLC25A4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
RS886041081 SLC25A4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
RS886041082 SLC25A4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
RS886041083 INS Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, permanent neonatal 4
RS886041084 TBCD Health Risk Pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS886041085 TBCD Health Risk Pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS886041086 TBCD Health Risk Pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
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