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
RS122454124 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS122454125 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS122454126 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Thyroid cancer
RS122454127 RPS6KA3 Health Risk Likely pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS122454128 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS122454129 RPS6KA3 Health Risk Pathogenic Intellectual disability, X-linked 19
RS122454130 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS122454131 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS1224542443 RAG2 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS122455132 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Intellectual disability
RS1224554825 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS122456133 CACNA1F Health Risk Pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness 2A
RS122456134 CACNA1F Health Risk Pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness
RS122456135 CACNA1F Health Risk Pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness
RS122456136 CACNA1F Health Risk Pathogenic Congenital stationary night blindness, type 2A
RS1224562361 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS122457137 DCX Health Risk Pathogenic/Likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Subcortical laminar heterotopia
RS122458138 ACSL4 Health Risk Pathogenic Intellectual disability, X-linked 63
RS122458139 ACSL4 Health Risk Likely pathogenic Intellectual disability, X-linked 63
RS122458140 FHL1 Health Risk Pathogenic X-linked scapuloperoneal muscular dystrophy, X-linked myopathy with postural muscle atrophy
RS122458141 FHL1 Health Risk Pathogenic/Likely pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS122458142 FHL1 Health Risk Pathogenic Myopathy, reducing body
RS122458143 FHL1 Health Risk Pathogenic Myopathy, reducing body
RS122458144 FHL1 Health Risk Pathogenic Myopathy, reducing body
RS122458145 FHL1 Health Risk Likely pathogenic Myopathy, reducing body
RS122459146 FHL1 Health Risk Pathogenic Myopathy, reducing body
RS122459147 FHL1 Health Risk Pathogenic Myopathy, reducing body
RS122459148 FHL1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 6, Emery-Dreifuss muscular dystrophy 6
RS122459149 FHL1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 6, X-linked myopathy with postural muscle atrophy
RS1224597817 RYR2 Health Risk Conflicting classifications of pathogenicity Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2
RS1224600457 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS122460150 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS122460152 ARSL Health Risk Pathogenic/Likely pathogenic X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1
RS122460153 ARSL Health Risk Likely pathogenic X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1
RS122460154 ARSL Health Risk Pathogenic X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1
RS122460155 ARSL Health Risk Pathogenic X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1
RS122460156 TRAPPC2 Health Risk Pathogenic Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
RS122460157 CDKL5 Health Risk Pathogenic/Likely pathogenic Atypical Rett syndrome, Developmental and epileptic encephalopathy
RS122460158 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS122460159 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1224602711 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS122461160 IL1RAPL1 Health Risk Pathogenic Intellectual disability, X-linked 21
RS122461161 IL1RAPL1 Health Risk Likely pathogenic Intellectual disability, X-linked 21
RS122461162 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS122461163 HSD17B10 Health Risk Pathogenic HSD10 mitochondrial disease, HSD10 mitochondrial disease
RS1224612016 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS122462164 HSD17B10 Health Risk Pathogenic HSD10 mitochondrial disease, HSD10 mitochondrial disease
RS122462165 ZIC3 Health Risk Pathogenic Heterotaxy, visceral
RS122462166 ZIC3 Health Risk Pathogenic Heterotaxy, visceral
RS12246234 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS1224625808 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS122463167 ZIC3 Health Risk Pathogenic Heterotaxy, visceral
RS122463168 ZIC3 Health Risk Pathogenic Heterotaxy, visceral
RS1224632697 MEGF8 Health Risk Likely pathogenic Carpenter syndrome, Carpenter syndrome
RS1224639550 PLCB4 Health Risk Likely pathogenic —
RS1224640834 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS1224647778 COL17A1 Health Risk Pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS122467169 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS122467170 FOXP3 Health Risk Pathogenic/Likely pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS122467171 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS122467172 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS122467173 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS122467174 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS122467175 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS122468176 MBTPS2 Health Risk Pathogenic IFAP syndrome 1, with or without BRESHECK syndrome
RS122468177 MBTPS2 Health Risk Pathogenic IFAP syndrome 1, with or without BRESHECK syndrome
RS122468178 MBTPS2 Health Risk Pathogenic IFAP syndrome 1, with or without BRESHECK syndrome
RS122468179 MBTPS2 Health Risk Pathogenic IFAP syndrome 1, with or without BRESHECK syndrome
RS122468180 MBTPS2 Health Risk Pathogenic IFAP syndrome 1, with or without BRESHECK syndrome
RS122468181 UPF3B Health Risk Pathogenic Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS122468182 UPF3B Health Risk Pathogenic Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS1224689084 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1224691808 TET2 Health Risk Pathogenic —
RS1224695466 SCO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 4
RS1224729035 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1224731205 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS1224736770 GDF6 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 4, Microphthalmia
RS1224744059 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1224745720 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1224762841 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS1224775480 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS1224777335 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1224783275 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1224786667 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1224814897 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1224819887 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1224820591 BRAT1 Health Risk Pathogenic/Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1224834751 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS1224841813 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS1224850132 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1224857205 RFXAP Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS1224862076 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1224874674 SPINT2 Health Risk Likely pathogenic Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
RS1224883896 ATM Health Risk Pathogenic Breast carcinoma, Ataxia-telangiectasia syndrome
RS1224922793 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS1224934895 FRAS1 Health Risk Pathogenic —
RS1224946467 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1224971025 RIGI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1224979359 TANGO2 Health Risk Pathogenic —
RS1224983278 MCM3AP Health Risk Likely pathogenic —
« Prev 1 ... 289 290 291 292 293 294 295 ... 4509 Next »

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

Get Started Free →