SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS876661365 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS876661368 MYBPC3 Health Risk Likely pathogenic —
RS876661377 MYH7 Health Risk Likely pathogenic —
RS876661380 NKX2-5 Health Risk Conflicting classifications of pathogenicity Reclassified - variant of unknown significance, Reclassified - variant of unknown significance
RS876661381 NKX2-5 Health Risk Pathogenic —
RS876661386 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS876661387 RYR2 Health Risk Likely pathogenic —
RS876661393 TNNC1 Health Risk Likely pathogenic —
RS876661394 TNNI3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS876661395 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS876661398 TTN Health Risk Likely pathogenic —
RS876661403 TTC8 Health Risk Pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS876661405 CEACAM16 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 4B, Autosomal dominant nonsyndromic hearing loss 4B
RS876661406 TPM3 Health Risk Pathogenic Congenital myopathy 4A, autosomal dominant
RS876661407 TPM3 Health Risk Likely pathogenic Congenital myopathy 4A, autosomal dominant
RS876661408 CDC14A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 32, Ear malformation
RS878852979 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS878852980 NANS Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Genevieve type
RS878852981 NANS Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Genevieve type
RS878852983 LEMD2 Health Risk Pathogenic Cataract 46 juvenile-onset, Cataract 46 juvenile-onset
RS878852988 CYP11B2 Health Risk Pathogenic —
RS878852989 HLCS Health Risk Pathogenic —
RS878852992 TWIST1 Health Risk Conflicting classifications of pathogenicity TWIST1-related craniosynostosis, Sweeney-Cox syndrome
RS878852993 MYD88 Health Risk Pathogenic/Likely pathogenic Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency
RS878852996 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS878852998 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS878852999 DNAJC19 Health Risk Likely pathogenic 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
RS878853000 PAX2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 7, PAX2-related disorder
RS878853002 SLC4A1 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis, Southeast Asian ovalocytosis
RS878853004 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS878853006 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS878853009 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS878853011 RERE Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS878853012 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Macrocephaly-autism syndrome
RS878853015 COL4A5 Health Risk Likely pathogenic —
RS878853016 ZEB2 Health Risk Pathogenic —
RS878853017 COL4A5 Health Risk Pathogenic —
RS878853025 NF1 Health Risk Pathogenic —
RS878853026 KCNH1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS878853030 COL4A5 Health Risk Pathogenic —
RS878853031 RAG1 Health Risk Pathogenic Histiocytic medullary reticulosis, Severe combined immunodeficiency
RS878853033 AR Health Risk Pathogenic —
RS878853036 LTBP3 Health Risk Pathogenic/Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS878853044 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, complementation group 7
RS878853045 MYT1L Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 39
RS878853048 HDAC8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS878853051 GNAO1 Health Risk Likely pathogenic —
RS878853055 BRWD3 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 93
RS878853066 IFIH1 Health Risk Pathogenic —
RS878853069 MTM1 Health Risk Likely pathogenic —
RS878853070 COL4A1 Health Risk Likely pathogenic Anterior segment dysgenesis, Brain small vessel disease 1 with or without ocular anomalies
RS878853071 DKC1 Health Risk Pathogenic —
RS878853076 PLP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS878853079 AVPR2 Health Risk Pathogenic —
RS878853082 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS878853083 GJC2 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS878853084 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS878853088 ARID1A Health Risk Pathogenic —
RS878853089 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS878853090 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS878853094 TCF12 Health Risk Likely pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS878853095 FBN1 Health Risk Pathogenic —
RS878853098 COMP Health Risk Likely pathogenic —
RS878853099 L1CAM Health Risk Pathogenic —
RS878853102 GDF6 Health Risk Likely pathogenic —
RS878853106 ACADM Health Risk Pathogenic —
RS878853108 MTM1 Health Risk Pathogenic —
RS878853110 MED23 Health Risk Likely pathogenic —
RS878853111 NSD1 Health Risk Likely pathogenic —
RS878853112 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS878853113 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS878853114 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS878853117 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS878853118 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS878853119 INPPL1 Health Risk Likely pathogenic Opsismodysplasia, Opsismodysplasia
RS878853123 INPPL1 Health Risk Pathogenic Opsismodysplasia, Opsismodysplasia
RS878853124 KCTD1 Health Risk Pathogenic Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome
RS878853125 KCTD1 Health Risk Pathogenic Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome
RS878853126 MYH3 Health Risk Pathogenic Contractures, pterygia
RS878853127 NALCN Health Risk Pathogenic Congenital contractures of the limbs and face, hypotonia
RS878853128 NALCN Health Risk Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS878853129 NALCN Health Risk Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS878853130 NALCN Health Risk Pathogenic Congenital contractures of the limbs and face, hypotonia
RS878853131 NALCN Health Risk Pathogenic Congenital contractures of the limbs and face, hypotonia
RS878853132 NALCN Health Risk Pathogenic Congenital contractures of the limbs and face, hypotonia
RS878853133 NALCN Health Risk Pathogenic Congenital contractures of the limbs and face, hypotonia
RS878853134 NALCN Health Risk Pathogenic Congenital contractures of the limbs and face, hypotonia
RS878853135 PIEZO2 Health Risk Pathogenic Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
RS878853138 PIEZO2 Health Risk Pathogenic Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
RS878853139 PIEZO2 Health Risk Pathogenic Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
RS878853140 PIEZO2 Health Risk Pathogenic Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
RS878853141 KDM5C Health Risk Pathogenic Intellectual disability, Intellectual disability
RS878853142 RAI1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS878853143 GRIN1 Health Risk Likely pathogenic Intellectual disability, Neurodevelopmental disorder with or without hyperkinetic movements and seizures
RS878853144 IQSEC2 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS878853145 PQBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Renpenning syndrome
RS878853146 IL1RAPL1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS878853147 NLGN3 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS878853148 PHF8 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS878853149 TCF4 Health Risk Pathogenic Intellectual disability, Pitt-Hopkins syndrome
« Prev 1 ... 3876 3877 3878 3879 3880 3881 3882 ... 4010 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →