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
RS727504074 PDE6B Health Risk Conflicting classifications of pathogenicity —
RS727504075 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa
RS727504076 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS727504081 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS727504083 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, PEX6-related disorder
RS727504084 PGK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS727504087 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS727504088 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS727504089 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS727504090 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS727504092 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS727504096 PKHD1 Health Risk Pathogenic Abnormal intrahepatic bile duct morphology, Autosomal recessive polycystic kidney disease
RS727504098 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS727504101 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS727504103 POMGNT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS727504104 PRICKLE1 Health Risk Conflicting classifications of pathogenicity Epilepsy, progressive myoclonic
RS727504105 PRICKLE2 Health Risk Conflicting classifications of pathogenicity —
RS727504106 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5
RS727504107 PRPF31 Health Risk Pathogenic —
RS727504108 PRPF31 Health Risk Conflicting classifications of pathogenicity —
RS727504109 PRPF8 Health Risk Conflicting classifications of pathogenicity —
RS727504111 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS727504113 PTCHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727504114 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS727504115 PTEN Health Risk Conflicting classifications of pathogenicity Cowden syndrome 1, Cowden syndrome 1
RS727504116 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS727504118 RAI1 Health Risk Pathogenic —
RS727504119 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS727504120 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS727504121 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS727504122 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS727504126 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS727504131 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS727504134 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS727504136 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS727504138 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS727504140 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS727504141 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS727504142 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS727504143 SCN1A Health Risk Likely pathogenic —
RS727504144 SCN9A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 7
RS727504145 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS727504146 SEC63 Health Risk Pathogenic —
RS727504151 SMAD4 Health Risk Pathogenic —
RS727504155 SLC16A2 Health Risk Conflicting classifications of pathogenicity Allan-Herndon-Dudley syndrome, Spastic paraplegia
RS727504156 SLC17A5 Health Risk Pathogenic/Likely pathogenic Sialic acid storage disease, severe infantile type
RS727504157 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Sialic acid storage disease
RS727504158 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS727504159 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Decreased circulating carnitine concentration
RS727504162 SMARCB1 Health Risk Conflicting classifications of pathogenicity —
RS727504164 SMC1A Health Risk Likely pathogenic —
RS727504165 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS727504166 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS727504167 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS727504169 SOX2 Health Risk Conflicting classifications of pathogenicity Amenorrhea, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS727504170 SPRED1 Health Risk Pathogenic Noonan syndrome and Noonan-related syndrome, Legius syndrome
RS727504171 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS727504172 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS727504173 STXBP1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 4
RS727504174 TCF4 Health Risk Pathogenic —
RS727504175 TCF4 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS727504177 TNNT1 Health Risk Pathogenic —
RS727504178 TOPORS Health Risk Conflicting classifications of pathogenicity —
RS727504180 TPM2 Health Risk Likely pathogenic —
RS727504181 TPM3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy 4B, autosomal recessive
RS727504182 TRPM1 Health Risk Conflicting classifications of pathogenicity —
RS727504183 TSEN54 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727504184 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS727504187 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727504189 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504190 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504191 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS727504192 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS727504194 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS727504195 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727504198 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504199 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504201 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS727504205 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504206 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727504211 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727504213 USH2A Health Risk Conflicting classifications of pathogenicity —
RS727504214 VCAN Health Risk Conflicting classifications of pathogenicity VCAN-related disorder, VCAN-related disorder
RS727504215 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS727504217 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS727504219 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS727504221 WDR19 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS727504223 ZEB2 Health Risk Pathogenic —
RS727504224 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS727504226 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS727504227 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS727504228 ZEB2 Health Risk Pathogenic —
RS727504229 COL8A2 Health Risk Pathogenic Corneal dystrophy, Fuchs endothelial
RS727504233 EGFR Health Risk Pathogenic Tyrosine kinase inhibitor response, Lung adenocarcinoma
RS727504236 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504237 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504238 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS727504239 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504240 MYH7 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS727504241 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
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