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
RS147734882 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS147736312 ARHGEF15 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS147736385 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS1477371498 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS1477374848 COL11A1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS147737737 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS147738223 FARP2 Health Risk Conflicting classifications of pathogenicity —
RS147738481 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147738533 DNAAF19 Health Risk Pathogenic Primary ciliary dyskinesia, Diarrhea 12
RS147738731 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 50, Hereditary spastic paraplegia
RS1477392994 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
RS147739328 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, SGCA-related disorder
RS1477401624 CHRNA1 Health Risk Pathogenic Myasthenic syndrome, congenital
RS147740612 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome
RS147741073 MCCC1 Health Risk Pathogenic —
RS147741798 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS147741842 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Inborn genetic diseases
RS1477418525 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147742157 DSC2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1477424620 EPB41 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 1, Elliptocytosis 1
RS1477443863 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS147744729 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS147744763 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS147744868 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS147745609 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Intellectual disability
RS1477456222 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1477466218 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS147747530 COL9A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147748627 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS147748659 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS1477486919 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS147748696 RAG2 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS147749053 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS1477494152 AEBP1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic-like
RS147750177 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS147750391 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147750704 KCNJ2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS147750747 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases
RS1477507686 MCM3AP Health Risk Pathogenic —
RS147751409 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1477514775 GATA3 Health Risk Pathogenic —
RS147751802 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1477524771 CPAP;RNF17 Health Risk Likely pathogenic Microcephaly 6, primary
RS1477525034 PNKP Health Risk Pathogenic Ataxia - oculomotor apraxia type 4, Ataxia - oculomotor apraxia type 4
RS1477527791 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS1477527807 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS147753316 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147753803 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS147754007 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1477540228 NHLRC1 Health Risk Pathogenic/Likely pathogenic Lafora disease, Lafora disease
RS147754092 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS147754663 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, TRMU-related disorder
RS1477548902 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS147754935 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1477553245 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS1477553904 KIZ Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1477560269 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS147757966 PRKN Health Risk Pathogenic/Likely pathogenic PRKN-related disorder, Lung cancer
RS1477583336 CACNA2D2 Health Risk Pathogenic Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay
RS147759262 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS147760280 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS147760401 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS147761216 KIF21B Health Risk Conflicting classifications of pathogenicity —
RS1477622307 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS147762307 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS147763588 ACE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147763700 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS147764579 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1477653630 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS147765409 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1477656610 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS147765799 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS147766428 SPTBN2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 14, Spinocerebellar ataxia type 5
RS147766472 FZD4 Health Risk Conflicting classifications of pathogenicity —
RS147766868 IL12RB1 Health Risk Pathogenic Inherited Immunodeficiency Diseases, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1477669354 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS147766972 BBS1;ZDHHC24 Health Risk Likely pathogenic Inborn genetic diseases, Bardet-Biedl syndrome
RS147767277 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS147767925 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Inborn genetic diseases
RS147768211 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS147768538 LEPR Health Risk Conflicting classifications of pathogenicity Obesity due to leptin receptor gene deficiency, LEPR-related disorder
RS147768808 LRMDA Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 7, Oculocutaneous albinism type 7
RS1477689141 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS147769257 FMN1 Health Risk Conflicting classifications of pathogenicity —
RS1477693311 CCND2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1477697117 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1477699803 RET Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS1477700804 XPA Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS1477702016 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1477705832 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS147770839 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS147771140 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS147771284 PLAA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1477715874 FAM161A Health Risk Pathogenic —
RS147772422 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS147772587 PEG3 Health Risk Conflicting classifications of pathogenicity —
RS147772724 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS147772932 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS147772956 RBP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS1477733493 CDHR1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
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