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
RS1451406050 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS145141656 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS145141976 CETP Health Risk Conflicting classifications of pathogenicity Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
RS145142090 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS145142121 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS145142157 MYPN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1KK
RS145142315 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia
RS145143533 APOB Health Risk Pathogenic Hypobetalipoproteinemia, Hypercholesterolemia
RS145143725 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, DYSF-related disorder
RS145143758 MFF Health Risk Conflicting classifications of pathogenicity Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
RS1451442305 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS145144233 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1451442644 VPS13A Health Risk Likely pathogenic —
RS145144527 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS1451449404 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS145145045 SETX Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia, Inborn genetic diseases
RS1451455641 ACADVL Health Risk Pathogenic/Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS145145840 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS145146059 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder
RS145146218 NUP93 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 12
RS1451464888 MSH3 Health Risk Pathogenic —
RS1451472748 ARG1 Health Risk Pathogenic/Likely pathogenic Arginase deficiency, Arginase deficiency
RS145148072 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS1451486649 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS145148854 CDAN1 Health Risk Pathogenic Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS1451493287 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1451502922 CUL7 Health Risk Pathogenic —
RS145150489 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, CACNA2D4-related disorder
RS1451513451 POLE Health Risk Conflicting classifications of pathogenicity Familial colorectal cancer, Hereditary cancer-predisposing syndrome
RS145151396 PRSS12 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 1
RS1451516304 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145152331 STAT2 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS145152682 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Congenital bile acid synthesis defect 3
RS145153173 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS145153467 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS1451537398 ADAMTS18 Health Risk Pathogenic —
RS1451538466 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS145154247 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Inborn genetic diseases
RS145154295 FCHO1 Health Risk Conflicting classifications of pathogenicity —
RS145154884 DCDC2 Health Risk Conflicting classifications of pathogenicity Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66
RS145155035 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, RASopathy
RS145155499 SLC11A2 Health Risk Conflicting classifications of pathogenicity Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload
RS1451559860 RIN2 Health Risk Conflicting classifications of pathogenicity —
RS1451563103 RTTN Health Risk Pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS1451568611 UNC80 Health Risk Pathogenic —
RS1451572769 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1451575280 CNGB1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS145158238 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, Inborn genetic diseases
RS145158686 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS145159429 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL11A1-related disorder
RS145160045 PIGV Health Risk Conflicting classifications of pathogenicity PIGV-related disorder, Hyperphosphatasia with intellectual disability syndrome 1
RS145160213 DCHS1 Health Risk Conflicting classifications of pathogenicity DCHS1-related disorder, DCHS1-related disorder
RS145160881 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, Inborn genetic diseases
RS145162376 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, AGRN-related disorder
RS145162968 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, CNTNAP2-related disorder
RS145163157 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS145163592 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS145163692 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS145163993 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS145164937 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia 1
RS145165171 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS1451652011 COL7A1 Health Risk Pathogenic —
RS145165301 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS145165730 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS145166164 ALX4 Health Risk Conflicting classifications of pathogenicity Parietal foramina 2, Inborn genetic diseases
RS145166656 PHKB Health Risk Pathogenic/Likely pathogenic Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXb
RS145166802 RIPOR2 Health Risk Conflicting classifications of pathogenicity —
RS1451674068 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS145167688 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS145167842 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS145168351 F11 Health Risk Conflicting classifications of pathogenicity Plasma factor XI deficiency, Plasma factor XI deficiency
RS145169006 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS145169484 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1451696033 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS145169816 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1451698951 WDR19 Health Risk Pathogenic/Likely pathogenic Type IV short rib polydactyly syndrome, Type IV short rib polydactyly syndrome
RS145170518 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Finnish type amyloidosis
RS145170911 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1451709678 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS145171191 MARS2 Health Risk Conflicting classifications of pathogenicity —
RS145171629 NLRP12 Health Risk Conflicting classifications of pathogenicity Childhood-onset schizophrenia, Familial cold autoinflammatory syndrome 2
RS145171998 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS145172277 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Hepatocellular carcinoma
RS145172612 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Schizencephaly
RS145172999 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1451730099 GUCY2C Health Risk Likely pathogenic Meconium ileus, Meconium ileus
RS145173864 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS145175147 MAMLD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypospadias 2
RS145175293 TRAPPC12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145175796 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Inborn genetic diseases
RS145176345 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS145176701 TCN1 Health Risk Conflicting classifications of pathogenicity Transcobalamin I deficiency, Transcobalamin I deficiency
RS145177445 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NBAS-related disorder
RS1451776623 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1451777867 CLN6 Health Risk Likely pathogenic Ceroid lipofuscinosis, neuronal
RS1451780491 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS1451785682 PLP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS145178648 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS145179304 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS145179638 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
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