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
RS387907151 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia 2, Primary ciliary dyskinesia 2
RS387907152 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia 2, Primary ciliary dyskinesia
RS387907153 TINF2 Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 3
RS387907154 TINF2 Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 3
RS387907155 KLHL3 Health Risk Pathogenic Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D
RS387907156 KLHL3 Health Risk Pathogenic Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D
RS387907157 PTPN11 Health Risk Pathogenic Metachondromatosis, RASopathy
RS387907158 PTPN11 Health Risk Pathogenic Metachondromatosis, Metachondromatosis
RS387907159 RAD51C Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS387907160 CRPPA Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS387907161 CRPPA Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS387907162 CRPPA Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS387907163 UVSSA Health Risk Pathogenic UV-sensitive syndrome 3, UV-sensitive syndrome 3
RS387907164 UVSSA Health Risk Pathogenic UV-sensitive syndrome 3, UV-sensitive syndrome 3
RS387907167 H6PD Health Risk Pathogenic Cortisone reductase deficiency 1, Cortisone reductase deficiency 1
RS387907168 HSD11B1 Health Risk Pathogenic Cortisone reductase deficiency 2, Cortisone reductase deficiency 2
RS387907169 SOST Health Risk Pathogenic Craniodiaphyseal dysplasia, autosomal dominant
RS387907170 ETFDH Health Risk Pathogenic/Likely pathogenic Glutaric acidemia iic, late-onset
RS387907172 FA2H Health Risk Pathogenic Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
RS387907173 C19orf12 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4
RS387907174 LTBP2 Health Risk Pathogenic Microspherophakia, Microspherophakia
RS387907175 LTBP2 Health Risk Likely pathogenic Microspherophakia, Microspherophakia and/or megalocornea
RS387907176 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS387907177 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS387907178 GNAI3 Health Risk Pathogenic/Likely pathogenic Auriculocondylar syndrome 1, Auriculocondylar syndrome 1
RS387907179 PLCB4 Health Risk Pathogenic Auriculocondylar syndrome 2, Auriculocondylar syndrome 1
RS387907180 ALG11 Health Risk Pathogenic/Likely pathogenic ALG11-congenital disorder of glycosylation, ALG11-related disorder
RS387907181 ALG11 Health Risk Pathogenic/Likely pathogenic ALG11-congenital disorder of glycosylation, ALG11-related disorder
RS387907182 ALG11 Health Risk Pathogenic ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS387907184 ALG11 Health Risk Pathogenic ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS387907185 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS387907186 SF3B4 Health Risk Pathogenic Nager syndrome, Inborn genetic diseases
RS387907188 GATAD1 Health Risk Pathogenic Dilated cardiomyopathy 2B, Dilated cardiomyopathy 2B
RS387907190 NSUN2 Health Risk Pathogenic Intellectual disability, autosomal recessive 5
RS387907191 NSUN2 Health Risk Pathogenic Intellectual disability, autosomal recessive 5
RS387907192 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS387907193 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS387907194 SMARCA2 Health Risk Pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS387907196 EXOSC3 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1B, 7 conditions
RS387907197 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Ectodermal dysplasia
RS387907198 IRX5 Health Risk Pathogenic Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome
RS387907199 NDUFS1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS387907200 SPR Health Risk Pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency
RS387907201 F2 Health Risk Pathogenic Thrombophilia due to thrombin defect, Congenital prothrombin deficiency
RS387907202 COG4 Health Risk Pathogenic COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
RS387907203 COG4 Health Risk Pathogenic COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
RS387907204 FUZ Health Risk risk factor Neural tube defects, susceptibility to
RS387907205 KRAS Health Risk Likely pathogenic Cardiofaciocutaneous syndrome 2, Cardio-facio-cutaneous syndrome
RS387907206 KRAS Health Risk Pathogenic/Likely pathogenic Cardiofaciocutaneous syndrome 2, Cardiofaciocutaneous syndrome 2
RS387907207 GATA1 Health Risk Likely pathogenic Beta-thalassemia-X-linked thrombocytopenia syndrome, Thrombocytopenia
RS387907208 ABCC9 Health Risk Pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS387907209 ABCC9 Health Risk Pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS387907210 ABCC9 Health Risk Pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type
RS387907211 ABCC9 Health Risk Likely pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type
RS387907212 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS387907213 RAD21 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS387907214 AGPS Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS387907215 FAM20A Health Risk Pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS387907216 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS387907217 KIT Health Risk Pathogenic Piebaldism, progressive
RS387907218 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, Primary dilated cardiomyopathy
RS387907219 TRPV4 Health Risk Conflicting classifications of pathogenicity Familial digital arthropathy-brachydactyly, Brachyrachia (short spine dysplasia)
RS387907220 TRPV4 Health Risk Pathogenic Familial digital arthropathy-brachydactyly, Familial digital arthropathy-brachydactyly
RS387907221 TMEM165 Health Risk Pathogenic TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
RS387907222 TMEM165 Health Risk Conflicting classifications of pathogenicity TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
RS387907223 CDKN1C Health Risk Pathogenic IMAGe syndrome, IMAGe syndrome
RS387907224 CDKN1C Health Risk Likely pathogenic IMAGe syndrome, IMAGe syndrome
RS387907225 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Inborn genetic diseases
RS387907226 CDKN1C Health Risk Pathogenic IMAGe syndrome, IMAGe syndrome
RS387907227 ABCC9 Health Risk Likely pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS387907228 ABCC9 Health Risk Pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS387907229 ABCC9 Health Risk Pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type
RS387907230 ABCC9 Health Risk Pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type
RS387907231 WNT7A Health Risk Pathogenic/Likely pathogenic Schinzel phocomelia syndrome, Fuhrmann syndrome
RS387907232 NNT Health Risk Pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS387907233 NNT Health Risk Pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS387907234 NNT Health Risk Pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS387907235 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS387907236 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS387907237 MPC1 Health Risk Pathogenic Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency
RS387907238 MPC1 Health Risk Pathogenic Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency
RS387907239 HOXB1 Health Risk Pathogenic Facial paresis, hereditary congenital
RS387907240 CARD14 Health Risk Pathogenic/Likely pathogenic Pityriasis rubra pilaris, Papulosquamous eruptions
RS387907242 REEP1 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS387907243 DPAGT1 Health Risk Likely pathogenic Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation
RS387907244 DPAGT1 Health Risk Pathogenic Congenital myasthenic syndrome 13, Congenital myasthenic syndrome 13
RS387907245 DPAGT1 Health Risk Pathogenic Congenital myasthenic syndrome 13, Congenital myasthenic syndrome 13
RS387907246 KCTD7 Health Risk Pathogenic/Likely pathogenic Epilepsy, progressive myoclonic
RS387907247 TERT Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS387907248 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS387907249 TERT Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS387907250 TERT Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS387907251 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS387907252 VAX1 Health Risk Pathogenic Microphthalmia, syndromic 11
RS387907253 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Marshall-Smith syndrome
RS387907254 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS387907255 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS387907256 SLC17A3 Health Risk association Uric acid concentration, serum
RS387907257 SLC17A3 Health Risk risk factor Uric acid concentration, serum
RS387907259 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Spastic paraplegia 30B
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