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
RS2036410199 ERF Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, TWIST1-related craniosynostosis
RS2036418481 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2036425566 ERF Health Risk Likely pathogenic See cases, Noonan-like syndrome
RS2036425705 ERF Health Risk Pathogenic TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2036426238 ERF Health Risk Likely pathogenic TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2036427390 ERF Health Risk Likely pathogenic Lambdoidal craniosynostosis, ERF-related disorder
RS2036430129 COL18A1 Health Risk Pathogenic early onset and severe retinal dystrophy, early onset and severe retinal dystrophy
RS2036431734 COL18A1 Health Risk Pathogenic —
RS2036459233 LDHD Health Risk Pathogenic Lactic aciduria due to D-lactic acid, Lactic aciduria due to D-lactic acid
RS2036471593 ARL6 Health Risk Likely pathogenic Retinitis pigmentosa 55, Bardet-Biedl syndrome 3
RS2036471632 LRRK1 Health Risk Pathogenic —
RS2036476944 TAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS2036482593 UNC45A Health Risk Pathogenic Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome
RS2036496173 COL18A1 Health Risk Pathogenic early onset and severe retinal dystrophy, early onset and severe retinal dystrophy
RS2036497448 FOXP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2036507371 FOXP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2036514016 FOXP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2036548764 AHCY Health Risk Likely pathogenic Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS2036554820 OCA2 Health Risk Pathogenic/Likely pathogenic OCA2-related disorder, OCA2-related disorder
RS2036555943 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS2036558249 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2036570687 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2036577352 POLR3B Health Risk Pathogenic —
RS2036579205 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2036582730 CEP290 Health Risk Pathogenic —
RS2036592550 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS2036603652 CDK5RAP2 Health Risk Pathogenic —
RS2036605188 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2036657789 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2036700718 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2036706405 GREB1L Health Risk Pathogenic —
RS2036712105 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2036715609 GREB1L Health Risk Likely pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS2036717675 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2036720274 CEP290 Health Risk Pathogenic Joubert syndrome 5, Joubert syndrome 5
RS2036722229 CEP290 Health Risk Likely pathogenic Nephronophthisis, Joubert syndrome
RS2036788917 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2036808766 CEP290 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2036816455 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2036817502 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2036824785 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS2036830890 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2036833257 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS2036834025 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Thyroid cancer
RS2036842297 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2036859860 COX15 Health Risk Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS2036864117 COX15 Health Risk Pathogenic —
RS2036883719 CIC Health Risk Likely pathogenic CIC-related disorder, CIC-related disorder
RS2036950570 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2036952419 USH2A Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS2036971853 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2036974151 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2036975289 CEP290 Health Risk Pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS2036977719 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2036977924 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2036978379 COX15 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS2036991057 GREB1L Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS2037013894 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2037014263 USH2A Health Risk Pathogenic —
RS2037015853 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2037016118 USH2A Health Risk Likely pathogenic —
RS2037017719 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2037018431 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2037042664 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2037048154 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2037060386 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2037060453 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2037060934 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2037062100 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2037067131 KCNC3 Health Risk Likely pathogenic Spinocerebellar ataxia type 13, Spinocerebellar ataxia type 13
RS2037084779 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2037085057 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Coffin-Siris syndrome 5
RS2037085756 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2037087035 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2037087179 SMARCE1 Health Risk Pathogenic Familial meningioma, Familial meningioma
RS2037096994 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2037097403 GREB1L Health Risk Likely pathogenic —
RS2037100015 KISS1R Health Risk Likely pathogenic —
RS2037117656 COL18A1 Health Risk Pathogenic —
RS2037118140 COL18A1 Health Risk Pathogenic —
RS2037119027 COL18A1 Health Risk Pathogenic early onset and severe retinal dystrophy, early onset and severe retinal dystrophy
RS2037122005 COL18A1 Health Risk Pathogenic —
RS2037140260 CEP290 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2037142228 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2037142277 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2037142335 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2037146593 SMARCE1 Health Risk Likely pathogenic Familial meningioma, Familial meningioma
RS2037146773 SMARCE1 Health Risk Pathogenic Familial meningioma, Familial meningioma
RS2037146907 SMARCE1 Health Risk Pathogenic/Likely pathogenic Familial meningioma, Familial meningioma
RS2037147164 ARL6 Health Risk Pathogenic Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS2037150824 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2037151440 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2037179047 CCDC40 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2037200894 PIEZO2 Health Risk Likely pathogenic —
RS2037218302 POLR3B Health Risk Pathogenic POLR3B-related disorder, Charcot-Marie-Tooth disease
RS2037226022 BUB1B Health Risk Likely pathogenic Premature chromatid separation trait, Premature chromatid separation trait
RS2037226237 CEP290 Health Risk Pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS2037228215 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2037228249 BUB1B Health Risk Likely pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2037228556 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
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