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
RS121918784 SCN1A;SCN1A-AS1 Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 1
RS121918785 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918786 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918788 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, SCN1A-related disorder
RS121918789 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS121918791 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918792 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS121918793 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918795 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS121918796 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918797 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS121918799 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS121918800 SCN1A Health Risk Likely pathogenic SCN1A-related disorder, Early-infantile DEE
RS121918801 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 1
RS121918802 SCN1A Health Risk Conflicting classifications of pathogenicity West syndrome, Severe myoclonic epilepsy in infancy
RS121918803 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS121918805 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 1
RS121918806 SCN1A Health Risk Pathogenic —
RS121918807 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS121918808 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS121918809 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS121918811 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 1
RS121918812 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS121918813 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 1
RS121918816 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS121918817 SCN1A Health Risk Conflicting classifications of pathogenicity Autism, Severe myoclonic epilepsy in infancy
RS121918843 FOLR1 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS121918844 RPE65 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis 2
RS1219204735 ADAMTSL4 Health Risk Pathogenic —
RS1219206348 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1219221888 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS1219237924 DNAJC6 Health Risk Likely pathogenic Juvenile onset Parkinson disease 19A, Juvenile onset Parkinson disease 19A
RS1219265131 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1219266312 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1219270797 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1219277452 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1219288687 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1219299972 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS1219304070 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1219321065 COL9A3 Health Risk Pathogenic —
RS1219334377 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1219344385 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1219390670 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS1219402916 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1219417104 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1219418471 MAPKBP1 Health Risk Likely pathogenic MAPKBP1-related disorder, MAPKBP1-related disorder
RS1219432457 GYS1 Health Risk Likely pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS1219435870 BRIP1 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1219437391 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1219440385 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1219455303 VPS13A Health Risk Likely pathogenic —
RS1219458189 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1219458778 CYBC1 Health Risk Likely pathogenic —
RS1219459429 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1219472164 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1219480195 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS1219483069 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1219484230 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS1219484408 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS1219489337 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS1219494274 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS1219497521 SPINK5 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1219505844 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1219516037 AUH Health Risk Pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS1219522144 ACE Health Risk Pathogenic —
RS1219556604 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1219605974 MTRR Health Risk Likely pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS1219608074 POC1B Health Risk Pathogenic —
RS1219632810 SLC19A3 Health Risk Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1219639490 LAMC3 Health Risk Pathogenic —
RS121964845 TPI1 Health Risk Pathogenic/Likely pathogenic Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS121964848 TPI1 Health Risk Pathogenic Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS121964849 TPI1 Health Risk Pathogenic Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS121964850 TPI1 Health Risk Pathogenic Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS121964852 TPM3 Health Risk Pathogenic Congenital myopathy 4B, autosomal recessive
RS121964853 TPM3 Health Risk Likely pathogenic Congenital myopathy with fiber type disproportion, Congenital myopathy 4A
RS1219648533 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS121964854 TPM3 Health Risk Pathogenic Congenital myopathy with fiber type disproportion, Congenital myopathy 4B
RS121964855 TNNT2 Health Risk Pathogenic Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2
RS121964856 TNNT2 Health Risk Pathogenic Hypertrophic cardiomyopathy 2, Hypertrophic cardiomyopathy
RS121964858 TNNT2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS121964860 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2
RS121964862 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS121964863 DDR2 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS121964864 DDR2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS121964865 DDR2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS121964866 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS121964868 NTRK1 Health Risk Pathogenic/Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS121964869 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Charcot-Marie-Tooth disease
RS121964870 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS121964873 CDH1 Health Risk Conflicting classifications of pathogenicity Breast lobular carcinoma, Hereditary diffuse gastric adenocarcinoma
RS121964874 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS121964875 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS121964876 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS121964877 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS121964878 CDH1 Health Risk Pathogenic/Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS121964879 ATP6V1B1 Health Risk Pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS121964880 ATP6V1B1 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Nephrolithiasis
RS121964881 ATP6V1B1 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Inborn genetic diseases
RS121964882 AVP Health Risk Conflicting classifications of pathogenicity Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus
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