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
RS797045037 CREBBP Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS797045038 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, DCAF17-related disorder
RS797045039 DNAJB2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS797045040 DOK7 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS797045041 DYRK1A Health Risk Pathogenic/Likely pathogenic DYRK1A-related intellectual disability syndrome, Intellectual disability
RS797045042 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS797045043 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS797045044 FLNA Health Risk Pathogenic/Likely pathogenic Cardiac valvular dysplasia, X-linked
RS797045045 GABRB3 Health Risk Pathogenic/Likely pathogenic Epilepsy, childhood absence
RS797045046 GNAS Health Risk Pathogenic Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism
RS797045047 GRIN1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS797045048 ITGA3 Health Risk Pathogenic Epidermolysis bullosa, junctional 7
RS797045049 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS797045050 KIF1A Health Risk Likely pathogenic Spastic paraplegia, Neuropathy
RS797045051 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS797045053 MEF2C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS797045054 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS797045055 MT-ND6 Health Risk Likely pathogenic Dystonic disorder, Dysarthria
RS797045056 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS797045057 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045058 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045059 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS797045060 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS797045061 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045062 PEX16 Health Risk Likely pathogenic Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder 8B
RS797045063 PIK3R1 Health Risk Likely pathogenic SHORT syndrome, SHORT syndrome
RS797045064 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2
RS797045065 PRICKLE2 Health Risk Pathogenic Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy type 5
RS797045066 PTEN Health Risk Pathogenic Macrocephaly-autism syndrome, PTEN hamartoma tumor syndrome
RS797045067 SETX Health Risk Pathogenic/Likely pathogenic Cerebral palsy, Spinocerebellar ataxia
RS797045068 SETX Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS797045069 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS797045070 SMC3 Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS797045071 SPTLC1 Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 1, Hereditary sensory and autonomic neuropathy type 1
RS797045072 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS797045074 TUBB4A Health Risk Pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS797045075 WFS1 Health Risk Likely pathogenic/Likely risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS797045076 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6
RS797045077 YARS2 Health Risk Pathogenic Myopathy, lactic acidosis
RS797045078 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS797045079 ACE Health Risk Pathogenic/Likely pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS797045080 ACOX1 Health Risk Likely pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS797045082 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS797045083 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS797045084 COL17A1 Health Risk Likely pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS797045085 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS797045086 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS797045088 EYA4 Health Risk Likely pathogenic Dilated cardiomyopathy 1J, Cardiovascular phenotype
RS797045089 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS797045090 FLG Health Risk Pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS797045093 KIF7 Health Risk Pathogenic Acrocallosal syndrome, KIF7-related disorder
RS797045094 LIPA Health Risk Pathogenic/Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS797045095 MPDZ Health Risk Pathogenic/Likely pathogenic Hydrocephalus, nonsyndromic
RS797045096 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS797045097 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Cardiomyopathy
RS797045098 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS797045099 PAPSS2 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS797045100 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS797045101 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS797045102 PRX Health Risk Pathogenic/Likely pathogenic Autosomal recessive Dejerine-Sottas syndrome, Charcot-Marie-Tooth disease type 4F
RS797045103 RAB3GAP2 Health Risk Pathogenic/Likely pathogenic Warburg micro syndrome 2, Martsolf syndrome
RS797045104 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome 7, Joubert syndrome
RS797045105 SERAC1 Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS797045106 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS797045107 SLC4A11 Health Risk Pathogenic Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy
RS797045109 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS797045110 TALDO1 Health Risk Pathogenic Deficiency of transaldolase, Deficiency of transaldolase
RS797045111 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS797045112 UBR1 Health Risk Pathogenic Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS797045113 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS797045114 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS797045115 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS797045116 FANCM Health Risk Pathogenic/Likely pathogenic Spermatogenic failure 28, Fanconi anemia
RS797045117 MLH3 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS797045118 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS797045119 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS797045120 HGSNAT Health Risk Pathogenic Retinitis pigmentosa 73, Retinitis pigmentosa 73
RS797045121 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045122 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045123 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045124 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045125 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045126 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045127 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045128 SF3B4 Health Risk Pathogenic Nager syndrome, Hereditary hearing loss and deafness
RS797045129 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045130 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045131 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045132 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045133 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045134 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045135 ACVR1 Health Risk Pathogenic Progressive myositis ossificans, Progressive myositis ossificans
RS797045136 CTSF Health Risk Pathogenic Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13
RS797045137 CTSD Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis 10
RS797045139 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS797045140 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS797045141 HERC1 Health Risk Likely pathogenic Megalencephaly with thick corpus callosum, cerebellar atrophy
RS797045142 COL17A1 Health Risk Pathogenic Epithelial recurrent erosion dystrophy, Epithelial recurrent erosion dystrophy
RS797045143 LMNB2 Health Risk Pathogenic Progressive myoclonic epilepsy type 9, Progressive myoclonic epilepsy type 9
RS797045144 ACD Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 6
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