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
RS201279350 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Pseudohypoaldosteronism
RS201279487 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases
RS201279526 EARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201279543 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
RS201279606 FAT1 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS201279624 ACBD5 Health Risk Conflicting classifications of pathogenicity —
RS201279882 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Hypertrichotic osteochondrodysplasia Cantu type
RS201279883 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS201279960 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Neuronopathy
RS201280059 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypobetalipoproteinemia, Familial hypercholesterolemia
RS201280220 LAMB3 Health Risk Conflicting classifications of pathogenicity —
RS201280372 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS201280694 C5 Health Risk Conflicting classifications of pathogenicity Eculizumab, poor response to
RS201280782 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS201280871 DPYS Health Risk Pathogenic Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
RS201280873 SLC4A1 Health Risk Conflicting classifications of pathogenicity 11 conditions, Inborn genetic diseases
RS201280938 MMP9 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
RS201281141 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS201282468 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201282509 AGPS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rhizomelic chondrodysplasia punctata type 3
RS201283126 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS201283251 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GPR179-related disorder
RS201283589 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS201283647 LITAF Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease
RS201284198 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Hepatocellular carcinoma
RS201284459 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201284672 SLC17A5 Health Risk Pathogenic Salla disease, Sialic acid storage disease
RS201284699 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS201284800 PRDM9 Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS201284965 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS201285321 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Microvascular complications of diabetes
RS201285805 ASPM Health Risk Pathogenic —
RS201285872 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201285946 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201286421 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome
RS201286463 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 45
RS201286896 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS201287021 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS201287126 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS201288313 FOXRED1 Health Risk Conflicting classifications of pathogenicity —
RS201288335 COL9A3 Health Risk Conflicting classifications of pathogenicity COL9A3-related disorder, COL9A3-related disorder
RS201288341 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201288895 SYNPO Health Risk Conflicting classifications of pathogenicity —
RS201288968 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS201289118 COG8 Health Risk Likely pathogenic COG8-related disorder, COG8-related disorder
RS201289156 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS201289242 NDUFV1 Health Risk Conflicting classifications of pathogenicity —
RS201289608 SHOC2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS201289693 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS201289944 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS201290058 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201290358 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS201290605 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS201290745 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS201290965 GNAS Health Risk Conflicting classifications of pathogenicity Pseudohypoparathyroidism type 1B, Pseudohypoparathyroidism type 1C
RS201291016 FCSK Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation with defective fucosylation 2, Lymphoma
RS201291203 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS201291375 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201291446 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS201291595 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS201292596 CPLANE1 Health Risk Pathogenic/Likely pathogenic CPLANE1-related disorder, Joubert syndrome 17
RS201292830 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS201293291 FIG4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4
RS201293367 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS201293382 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome
RS201293634 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS201294090 WDR73 Health Risk Conflicting classifications of pathogenicity WDR73-related disorder, WDR73-related disorder
RS201294093 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201294520 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS201294539 POGZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201294691 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS201295052 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS201295238 ITSN2 Health Risk Conflicting classifications of pathogenicity ITSN2-related disorder, ITSN2-related disorder
RS201295268 RARB Health Risk Conflicting classifications of pathogenicity Microphthalmia, syndromic 12
RS201295344 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS201295415 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS201296399 KCTD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Progressive myoclonic epilepsy type 3
RS201296407 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS201296701 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS201296719 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS201296802 CD3G Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS201296827 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS201297042 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS201297144 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201297190 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS201298286 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS201298288 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS201298767 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201298777 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS201299038 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS201299216 B9D1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 9
RS201299260 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS201299366 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS201299522 PLAU Health Risk Conflicting classifications of pathogenicity Quebec platelet disorder, Quebec platelet disorder
RS201299983 TUBGCP6 Health Risk Conflicting classifications of pathogenicity TUBGCP6-related disorder, TUBGCP6-related disorder
RS201300027 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS201300259 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS201300786 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS201301365 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS201302102 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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