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
RS1859856446 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuronopathy
RS1859859572 SPTAN1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 5
RS1859863045 EFEMP2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1859865221 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1859884792 EFEMP2 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS1859894340 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1859902707 EFEMP2 Health Risk Likely pathogenic Cutis laxa, autosomal recessive
RS1859903893 PTS Health Risk Conflicting classifications of pathogenicity 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1859912470 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS185991527 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1859920352 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1859921286 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1859949436 EFEMP2 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS1859963198 PTEN Health Risk Likely pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS1859964600 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1859965098 PTEN Health Risk Pathogenic/Likely pathogenic Intellectual disability, Cowden syndrome 1
RS1859969176 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1859971515 PTS Health Risk Conflicting classifications of pathogenicity 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1859971691 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1859972447 PTS Health Risk Pathogenic/Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1859973156 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1859975512 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1859976874 PTEN Health Risk Pathogenic —
RS1859976995 EFEMP2 Health Risk Likely pathogenic Cutis laxa, autosomal recessive
RS1859977029 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Macrocephaly-autism syndrome
RS1859977307 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN-related disorder
RS1859977388 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1859979785 PTEN Health Risk Likely pathogenic Cowden syndrome, Cowden syndrome
RS1859983725 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS185999504 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS185999703 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiofaciocutaneous syndrome 4
RS186003800 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS186008764 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS186009079 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS186009343 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS186010225 POU3F4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, POU3F4-related disorder
RS186012808 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS186015395 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1860194524 DEAF1 Health Risk Pathogenic Intellectual disability-epilepsy-extrapyramidal syndrome, Intellectual disability-epilepsy-extrapyramidal syndrome
RS186019987 RMND1 Health Risk Conflicting classifications of pathogenicity —
RS1860201767 TRPC6 Health Risk Likely pathogenic Nephrotic syndrome, Focal segmental glomerulosclerosis 2
RS186020523 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS186021702 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS186023896 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS186025461 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1860257102 DEAF1 Health Risk Pathogenic Intellectual disability-epilepsy-extrapyramidal syndrome, Intellectual disability-epilepsy-extrapyramidal syndrome
RS1860258814 DEAF1 Health Risk Likely pathogenic DEAF1-related disorder, DEAF1-related disorder
RS186028417 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Hemorrhage
RS1860309810 DYNC2I2 Health Risk Likely pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS1860313722 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS186031413 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS186031457 PCCB Health Risk Pathogenic Propionic acidemia, Abnormality of metabolism/homeostasis
RS1860334710 DEAF1 Health Risk Likely pathogenic Intellectual disability-epilepsy-extrapyramidal syndrome, Intellectual disability-epilepsy-extrapyramidal syndrome
RS1860335967 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS1860338648 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS1860417110 PTEN Health Risk Pathogenic —
RS1860417734 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1860418425 PTEN Health Risk Conflicting classifications of pathogenicity Macrocephaly-autism syndrome, Cowden syndrome
RS1860421158 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1860422594 PTEN Health Risk Conflicting classifications of pathogenicity Cowden syndrome 1, Hereditary cancer-predisposing syndrome
RS1860425389 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1860428100 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS186043734 HARS2 Health Risk Conflicting classifications of pathogenicity —
RS186044004 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS186047961 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1860503169 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS186051700 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS1860524875 DEAF1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 24
RS1860525205 DEAF1 Health Risk Pathogenic —
RS1860525961 DEAF1 Health Risk Pathogenic Intellectual disability, autosomal dominant 24
RS1860544511 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1860548195 PTEN Health Risk Pathogenic Cowden syndrome 1, Hereditary cancer-predisposing syndrome
RS1860551073 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1860552294 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS186055804 KCNQ1 Health Risk Conflicting classifications of pathogenicity Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation
RS186056495 USF3 Health Risk Conflicting classifications of pathogenicity —
RS186057217 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS186057450 NDUFS1 Health Risk Pathogenic —
RS1860608927 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1860617439 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1860617657 DEAF1 Health Risk Likely pathogenic —
RS1860617849 PTEN Health Risk Conflicting classifications of pathogenicity Cowden syndrome 1, Cowden syndrome 1
RS1860618095 PTEN Health Risk Pathogenic Cowden syndrome, PTEN hamartoma tumor syndrome
RS1860618696 DEAF1 Health Risk Likely pathogenic —
RS1860620392 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1860621170 PTEN Health Risk Pathogenic Macrocephaly-autism syndrome, Cowden syndrome 1
RS1860625404 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN-related disorder
RS1860625934 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1860627982 PTEN Health Risk Likely pathogenic —
RS1860630372 PTEN Health Risk Pathogenic/Likely pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS1860630701 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1860631246 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1860633095 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1860634226 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1860668138 DEAF1 Health Risk Pathogenic Intellectual disability, autosomal dominant 24
RS1860668289 DEAF1 Health Risk Conflicting classifications of pathogenicity —
RS1860669125 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1860669248 DEAF1 Health Risk Pathogenic —
RS1860672061 DEAF1 Health Risk Pathogenic Intellectual disability-epilepsy-extrapyramidal syndrome, Intellectual disability-epilepsy-extrapyramidal syndrome
RS1860672898 DEAF1 Health Risk Pathogenic/Likely pathogenic —
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