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
RS148434254 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS148434485 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, MPL-related disorder
RS1484347924 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS148434996 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1484351533 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS148435229 TBX6 Health Risk Conflicting classifications of pathogenicity TBX6-related disorder, TBX6-related disorder
RS148435889 ICOS Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS148436079 PCDH12 Health Risk Likely pathogenic —
RS1484366007 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS148436608 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS1484366381 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia
RS148438059 CA12 Health Risk Conflicting classifications of pathogenicity Isolated hyperchlorhidrosis, Melanoma
RS1484394072 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1484394551 HADHB Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1484399991 L1CAM Health Risk Conflicting classifications of pathogenicity X-linked complicated corpus callosum dysgenesis, Spastic paraplegia
RS148440178 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS1484409119 SGCB Health Risk Pathogenic/Likely pathogenic Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS148441213 MFN2 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2
RS148442069 SCN1A Health Risk Pathogenic/Likely pathogenic Migraine, familial hemiplegic
RS148442092 GLI2 Health Risk Conflicting classifications of pathogenicity Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS1484421868 ADGRV1 Health Risk Pathogenic —
RS148442292 TECRL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3
RS148442799 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS148442901 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS148443938 TMC1 Health Risk Conflicting classifications of pathogenicity —
RS148444313 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS148445044 ABCA12 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B
RS148445461 PITX3 Health Risk Conflicting classifications of pathogenicity PITX3-related disorder, Inborn genetic diseases
RS1484455290 PLA2G6 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy
RS148445930 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1484464278 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS148446546 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Joubert syndrome 5
RS148447919 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS148448277 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148448660 TAF1 Health Risk Conflicting classifications of pathogenicity —
RS148448920 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1484497202 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1484503633 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS148450929 LRIT3 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS1484511643 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS148451236 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, PITPNM3-related disorder
RS148451498 ASPA Health Risk Likely pathogenic —
RS148451995 CELSR1 Health Risk Conflicting classifications of pathogenicity —
RS148453034 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 8
RS148453176 LIPC Health Risk Conflicting classifications of pathogenicity —
RS148453182 HYCC1 Health Risk Conflicting classifications of pathogenicity Hypomyelination and Congenital Cataract, HYCC1-related disorder
RS148453565 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS1484537659 EIF2AK4 Health Risk Pathogenic —
RS148453804 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 13
RS148454228 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS148454691 PAX3 Health Risk Conflicting classifications of pathogenicity Craniofacial-deafness-hand syndrome, Alveolar rhabdomyosarcoma
RS148454724 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1484547615 EPHB4 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1484553312 SGCG Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS148455519 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS148455993 ATAD3A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1484570929 TRIM37 Health Risk Pathogenic/Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS1484573200 NR2E3 Health Risk Pathogenic —
RS1484576607 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1484576810 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS148457914 CFAP46 Health Risk Conflicting classifications of pathogenicity —
RS1484579709 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS148458576 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Inborn genetic diseases
RS1484586294 ZNF469 Health Risk Pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS1484593364 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS148459550 SLC27A5 Health Risk Conflicting classifications of pathogenicity SLC27A5-related disorder, SLC27A5-related disorder
RS148460146 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS148460287 ACE Health Risk Conflicting classifications of pathogenicity —
RS148461282 GYS2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disorder due to hepatic glycogen synthase deficiency, Inborn genetic diseases
RS148461905 CYP1B1 Health Risk Conflicting classifications of pathogenicity Glaucoma 3A, Irido-corneo-trabecular dysgenesis
RS148462329 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS1484627654 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS148462839 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS148462924 ENPP1 Health Risk Pathogenic —
RS1484636342 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS148464130 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148464573 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Melanoma
RS1484648743 NDUFS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS1484648912 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS148464908 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1484650365 MSH3 Health Risk Likely pathogenic —
RS148465901 ATR Health Risk Pathogenic —
RS148466782 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS148467664 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1484679078 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14
RS148468031 OCA2 Health Risk Conflicting classifications of pathogenicity —
RS148468217 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS148468627 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, concomitant exotropia
RS148468628 CHRNG Health Risk Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS148468879 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS1484689392 ABCC8 Health Risk Likely pathogenic Familial hyperinsulinism, Hyperinsulinemic hypoglycemia
RS1484689525 AVPR2 Health Risk Pathogenic —
RS1484691355 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS1484695395 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS148470005 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS148470862 SLC33A1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS148471199 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS148471237 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS148471904 PNPLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148471911 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
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