SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS897627996 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS897658448 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS897661402 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS897706317 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS897732893 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder
RS897766386 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH5-related disorder
RS897771164 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS897776241 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS897804 HOOK2 Health Risk Conflicting classifications of pathogenicity Scoliosis, isolated
RS897810016 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS897816449 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS897822685 OTOG Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS897830106 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS897845923 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS897855683 CHM Health Risk Likely pathogenic Choroideremia, Choroideremia
RS897866453 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS897883046 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS897911822 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS897963232 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS897964106 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS897972295 ZAP70 Health Risk Pathogenic —
RS897976020 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 7
RS897997464 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS898003667 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS898012170 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS898043081 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS898055093 SI Health Risk Pathogenic/Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS898062661 RPGRIP1L Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS898083162 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS898098652 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS898144119 PDE6B Health Risk Pathogenic Retinal dystrophy, Autosomal recessive retinitis pigmentosa
RS898240891 BMP1 Health Risk Pathogenic —
RS898257627 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS898275076 TG Health Risk Likely pathogenic Iodotyrosyl coupling defect, TG-related disorder
RS898301590 BCS1L Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
RS898350077 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS898375030 AARS2 Health Risk Likely pathogenic —
RS898388789 SKIC2 Health Risk Pathogenic —
RS898393464 OTOF Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS898406635 SMARCA4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 16
RS898418482 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS898422350 MAEL Health Risk Likely pathogenic Male infertility, Male infertility
RS898441209 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS898490426 RAF1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 5, LEOPARD syndrome 2
RS898501852 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS898511378 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS898518962 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS898525501 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS898539189 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS898553156 HSPG2 Health Risk Pathogenic/Likely pathogenic Abnormal facial shape, Abnormal facial shape
RS898610495 DSG4 Health Risk Conflicting classifications of pathogenicity —
RS898648592 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS898658081 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-severe speech delay-mild dysmorphism syndrome, Inborn genetic diseases
RS898673491 LAMA1 Health Risk Likely pathogenic —
RS898678358 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS898695674 LARGE1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS898718526 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, LIFR-related disorder
RS898765598 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS898779231 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS898824971 EPRS1 Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS898836564 DRAM2 Health Risk Likely pathogenic —
RS898854295 SDHC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS898865024 UNC45A Health Risk Pathogenic Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome
RS898895746 GUCY2D Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Cone-rod dystrophy 6
RS898898802 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, EPHB4-related disorder
RS898923113 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS898946249 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS898957135 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS898963712 OCLN Health Risk Conflicting classifications of pathogenicity —
RS898964693 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS898984695 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, Glycogen storage disease IXc
RS898988422 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS898999212 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS899082537 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS899128423 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
RS899133377 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS899142959 DMP1 Health Risk Likely pathogenic Hypophosphatemic rickets, Hypophosphatemic rickets
RS899151863 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS899167549 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS899172501 DYNC2I1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly
RS899176705 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS899201476 DNHD1 Health Risk Likely pathogenic —
RS899211928 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS899227425 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Benign familial hematuria
RS899237804 HPS5 Health Risk Likely pathogenic —
RS899241025 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS899337697 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS899342601 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS899353 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS899356265 CRB2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 9, Focal segmental glomerulosclerosis 9
RS899373360 LMNA Health Risk Conflicting classifications of pathogenicity Hutchinson-Gilford syndrome, Charcot-Marie-Tooth disease type 2
RS899395870 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Multiple congenital exostosis
RS899399494 DDX41 Health Risk Pathogenic Inherited acute myeloid leukemia, DDX41-related hematologic malignancy predisposition syndrome
RS899460390 MYH3 Health Risk Pathogenic —
RS899469618 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS899469885 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS899478069 ERCC5 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS899515970 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS899519576 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS899521308 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
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