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
RS146420892 SCNN1G Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS146421389 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Inborn genetic diseases
RS146422068 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS1464223176 CBS Health Risk Pathogenic Homocystinuria, Classic homocystinuria
RS146422412 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, FKBP10-related disorder
RS1464226905 CDHR1 Health Risk Likely pathogenic —
RS1464234725 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS1464236744 PNP Health Risk Likely pathogenic —
RS1464239583 F11 Health Risk Likely pathogenic —
RS1464239857 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS146424389 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS146425212 LGI1 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial temporal lobe
RS1464253797 DSP Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, 6 conditions
RS146425381 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome
RS146426296 KCNJ10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome
RS1464282327 SOX4 Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 10, Intellectual disability
RS146429523 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS146430539 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS1464308137 RAB5IF Health Risk Pathogenic/Likely pathogenic 10 conditions, Craniofacial dysmorphism
RS146431168 EHHADH Health Risk Conflicting classifications of pathogenicity EHHADH-related disorder, EHHADH-related disorder
RS1464318474 OTOF Health Risk Likely pathogenic Ear malformation, Ear malformation
RS146432615 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS146432823 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS146432857 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS146433240 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Inborn genetic diseases
RS1464338870 NFU1 Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
RS1464339533 LZTR1 Health Risk Pathogenic —
RS146434058 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS146434364 PROM1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 12, Retinal macular dystrophy type 2
RS146434474 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1464359123 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS146436697 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS146436929 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS146438251 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1464389153 MSX1 Health Risk Likely pathogenic MSX1-related disorder, MSX1-related disorder
RS1464398432 PCSK1 Health Risk Likely pathogenic PCSK1-related disorder, PCSK1-related disorder
RS146440372 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1
RS146440397 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS146441514 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS146443074 KATNB1 Health Risk Conflicting classifications of pathogenicity —
RS1464438302 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS146444258 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13
RS146445078 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS1464452152 ADNP Health Risk Conflicting classifications of pathogenicity —
RS146445684 NDP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146445744 PDHX Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3-binding protein deficiency, Inborn genetic diseases
RS146447120 SEMA5A Health Risk Conflicting classifications of pathogenicity SEMA5A-related disorder, SEMA5A-related disorder
RS146447299 TCF12 Health Risk Conflicting classifications of pathogenicity —
RS146447673 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS146448211 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS146448562 OR5H2 Health Risk Conflicting classifications of pathogenicity —
RS146449374 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS146450643 TNFRSF11B Health Risk Conflicting classifications of pathogenicity TNFRSF11B-related disorder, TNFRSF11B-related disorder
RS146450828 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS146450992 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS146451037 RNASEH2B Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS146451547 USH1C Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS146451611 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS146453412 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS146453954 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS146454575 NR5A1 Health Risk Conflicting classifications of pathogenicity Oligosynaptic infertility, 46
RS1464547304 ATAD3A Health Risk Likely pathogenic Pontocerebellar hypoplasia, hypotonia
RS1464547777 HCCS Health Risk Conflicting classifications of pathogenicity —
RS146455175 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS146455382 SPTBN2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 14, Spinocerebellar ataxia type 5
RS146455733 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1464563247 COL4A2 Health Risk Pathogenic —
RS146457386 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS146457619 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS146457887 RAG1 Health Risk Conflicting classifications of pathogenicity Inherited Immunodeficiency Diseases, Microcephaly
RS1464581573 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1464584026 AGBL5 Health Risk Pathogenic —
RS146458524 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS1464587064 FREM1 Health Risk Pathogenic BNAR syndrome, BNAR syndrome
RS146460077 WNT10A Health Risk Conflicting classifications of pathogenicity Schöpf-Schulz-Passarge syndrome, Tooth agenesis
RS146460281 LAMA1 Health Risk Conflicting classifications of pathogenicity Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Inborn genetic diseases
RS1464608105 CEP295 Health Risk Pathogenic Seckel syndrome 11, Seckel syndrome 11
RS146460917 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS146461512 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS1464618848 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS146461956 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS146462407 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS146462440 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS146462599 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS146462823 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS1464633359 RB1 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Retinoblastoma
RS146464282 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS1464644246 DSP Health Risk Likely pathogenic —
RS146464426 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, KCNJ11-related disorder
RS146464862 CHRNA1 Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS146465073 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Inborn genetic diseases
RS146465357 ANGPT1 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 3, ANGPT1-related disorder
RS1464657042 FMO3 Health Risk Pathogenic —
RS146466185 SLC26A1 Health Risk Conflicting classifications of pathogenicity Nephrolithiasis, calcium oxalate
RS146466242 FLG Health Risk Conflicting classifications of pathogenicity Ichthyosis vulgaris, Dermatitis
RS146466275 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1464663200 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS146467216 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS1464673111 ADGRG1 Health Risk Pathogenic —
RS146467617 ATP5F1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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