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
RS267607134 TOR1A Health Risk Conflicting classifications of pathogenicity Dystonia 1, torsion
RS267607135 TPRN Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 79, Hearing loss
RS267607136 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS267607137 TRAPPC9 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 13
RS267607138 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS267607140 TRPM1 Health Risk Pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS267607141 TRPM1 Health Risk Pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS267607142 TRPM4 Health Risk Likely pathogenic Progressive familial heart block type IB, TRPM4-related disorder
RS267607143 TRPV4 Health Risk Pathogenic Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C
RS267607144 TRPV4 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS267607145 TRPV4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2C, Scapuloperoneal spinal muscular atrophy
RS267607146 TRPV4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2C, Scapuloperoneal spinal muscular atrophy
RS267607147 TRPV4 Health Risk Pathogenic Metatropic dysplasia, Metatropic dysplasia
RS267607148 TRPV4 Health Risk Pathogenic Spondylometaphyseal dysplasia, Kozlowski type
RS267607149 TRPV4 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Maroteaux type
RS267607150 TRPV4 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Maroteaux type
RS267607152 TSPAN12 Health Risk Likely pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS267607153 TSPAN12 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS267607154 TSPAN12 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS267607155 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Primary dilated cardiomyopathy
RS267607156 TTN Health Risk Likely pathogenic Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS267607158 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS267607159 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS267607160 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS267607161 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS267607162 TUBB3 Health Risk Pathogenic Fibrosis of extraocular muscles, congenital
RS267607163 TUBB3 Health Risk Pathogenic Fibrosis of extraocular muscles, congenital
RS267607164 TUBB3 Health Risk Pathogenic Fibrosis of extraocular muscles, congenital
RS267607165 TUBB3 Health Risk Pathogenic Fibrosis of extraocular muscles, congenital
RS267607167 VANGL2 Health Risk risk factor Neural tube defects, susceptibility to
RS267607168 VANGL2 Health Risk risk factor Neural tube defects, susceptibility to
RS267607169 VDR Health Risk Likely pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS267607170 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS267607171 VIPAS39 Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS267607172 VIPAS39 Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS267607173 VIPAS39 Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS267607174 WDR35 Health Risk Pathogenic Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2
RS267607175 WDR35 Health Risk Likely pathogenic Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2
RS267607176 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS267607177 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS267607178 WDR72 Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
RS267607179 XPNPEP3 Health Risk Pathogenic Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS267607180 YARS2 Health Risk Pathogenic/Likely pathogenic Myopathy, lactic acidosis
RS267607181 ZMPSTE24 Health Risk Pathogenic Lethal tight skin contracture syndrome, Lethal tight skin contracture syndrome
RS267607182 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 58, Retinitis pigmentosa 58
RS267607183 INF2 Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS267607184 INSR Health Risk Pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS267607185 INVS Health Risk Pathogenic Infantile nephronophthisis, Nephronophthisis
RS267607186 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS267607187 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS267607188 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS267607189 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS267607190 ISCU Health Risk Likely pathogenic Hereditary myopathy with lactic acidosis due to ISCU deficiency, Hereditary myopathy with lactic acidosis due to ISCU deficiency
RS267607191 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS267607192 IFT122 Health Risk Likely pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS267607193 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS267607194 KARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate B, Charcot-Marie-Tooth disease recessive intermediate B
RS267607195 KCNA1 Health Risk Pathogenic Episodic ataxia type 1, Episodic ataxia type 1
RS267607196 KCNJ11 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS267607198 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS267607199 KCTD7 Health Risk Pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS267607200 KIF21A Health Risk Pathogenic Fibrosis of extraocular muscles, congenital
RS267607201 KLF1 Health Risk Pathogenic Congenital dyserythropoietic anemia type 4, BLOOD GROUP--LUTHERAN INHIBITOR
RS267607203 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation
RS267607204 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation
RS267607205 KRT74 Health Risk Pathogenic Autosomal dominant wooly hair, Autosomal dominant wooly hair
RS267607206 L2HGDH Health Risk Pathogenic/Likely pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS267607209 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
RS267607210 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
RS267607211 LCAT Health Risk Pathogenic LCAT deficiency, LCAT deficiency
RS267607213 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS267607216 LEMD3 Health Risk Pathogenic Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
RS267607217 LEMD3 Health Risk Pathogenic Melorheostosis with osteopoikilosis, Dermatofibrosis lenticularis disseminata
RS267607218 LIPA Health Risk Pathogenic Lysosomal acid lipase deficiency, Wolman disease
RS267607219 LIPH Health Risk Pathogenic Woolly hair, autosomal recessive 2
RS267607220 LRP4 Health Risk Pathogenic Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome
RS267607221 LRP4 Health Risk Pathogenic Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome
RS267607222 LRP4 Health Risk Likely pathogenic Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS267607223 LRP4 Health Risk Pathogenic Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome
RS267607224 LRP4 Health Risk Pathogenic Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome
RS267607225 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
RS267607226 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
RS267607227 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia 13, Kartagener syndrome
RS267607228 LTBP4 Health Risk Pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS267607229 LTBP4 Health Risk Pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS267607230 MAP2K2 Health Risk Pathogenic/Likely pathogenic Cardiofaciocutaneous syndrome 4, Cardio-facio-cutaneous syndrome
RS267607231 MC2R Health Risk Pathogenic Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS267607232 MED17 Health Risk Pathogenic Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS267607233 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS267607234 MEN1 Health Risk Pathogenic Angiofibroma, somatic
RS267607235 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis
RS267607236 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
RS267607237 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS267607238 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS267607239 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Inborn genetic diseases
RS267607240 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS267607241 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS267607243 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS267607247 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS267607257 MPV17 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome, Charcot-Marie-Tooth disease
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