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
RS2035308819 COL18A1 Health Risk Pathogenic early onset and severe retinal dystrophy, early onset and severe retinal dystrophy
RS2035357091 HYDIN Health Risk Likely pathogenic —
RS2035358840 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2035366044 USH2A Health Risk Pathogenic —
RS2035367210 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2035387713 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2035393800 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2035399616 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS2035400071 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2035405646 CEP290 Health Risk Likely pathogenic —
RS2035418540 TGFB3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS2035456443 FGF14 Health Risk Pathogenic/Likely pathogenic —
RS2035478131 OCA2 Health Risk Pathogenic —
RS2035545895 GREB1L Health Risk Pathogenic Mayer-Rokitansky-Kuster-Hauser syndrome, Renal hypodysplasia/aplasia 3
RS2035546031 PIEZO2 Health Risk Pathogenic —
RS2035585345 IFT43 Health Risk Pathogenic —
RS2035606369 ELANE Health Risk Pathogenic/Likely pathogenic —
RS2035615592 ELANE Health Risk Likely pathogenic —
RS2035616857 ELANE Health Risk Pathogenic Cyclical neutropenia, Neutropenia
RS2035617210 ELANE Health Risk Pathogenic Cyclical neutropenia, Neutropenia
RS2035617899 ELANE Health Risk Likely pathogenic —
RS2035656072 COL4A6 Health Risk Likely pathogenic Hearing loss, X-linked 6
RS2035667597 TPM1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2035673569 ELANE Health Risk Likely pathogenic Cyclical neutropenia, Neutropenia
RS2035675760 ELANE Health Risk Likely pathogenic Neutropenia, severe congenital
RS2035677025 ELANE Health Risk Pathogenic/Likely pathogenic Neutropenia, severe congenital
RS2035678048 ELANE Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Inborn genetic diseases
RS2035679193 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS2035690432 MGME1 Health Risk Pathogenic —
RS2035704899 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2035717418 COL18A1 Health Risk Pathogenic early onset and severe retinal dystrophy, early onset and severe retinal dystrophy
RS2035718735 COL18A1 Health Risk Pathogenic/Likely pathogenic Hereditary glaucoma, primary closed-angle
RS2035749589 NDP Health Risk Likely pathogenic —
RS2035749634 NDP Health Risk Likely pathogenic —
RS2035758739 COL18A1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2035763126 ATP8A2 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS2035766325 PIGQ Health Risk Likely pathogenic PIGQ-related disorder, PIGQ-related disorder
RS2035826930 PIGQ Health Risk Pathogenic Developmental and epileptic encephalopathy, 77
RS2035829725 TRIM37 Health Risk Conflicting classifications of pathogenicity Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2035835799 COL18A1 Health Risk Likely pathogenic —
RS2035837216 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Inborn genetic diseases
RS2035847573 IFT140 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Saldino-Mainzer syndrome
RS2035849257 MGME1 Health Risk Pathogenic —
RS2035852852 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2035855899 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2035871619 NBEAL2 Health Risk Likely pathogenic —
RS2035880971 CEP290 Health Risk Likely pathogenic Retinal dystrophy, Nephronophthisis
RS2035884532 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2035898709 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2035938455 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS2035968630 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS2035993567 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS2036006618 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2036007545 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2036008214 PNPO Health Risk Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS2036047362 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2036051613 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2036054113 IL12RB1 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2036054600 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS2036054669 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2036056925 USH2A Health Risk Pathogenic —
RS2036063225 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2036063892 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2036065933 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2036066367 USH2A Health Risk Pathogenic —
RS2036066604 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2036069585 USH2A Health Risk Pathogenic —
RS2036074360 F7 Health Risk Conflicting classifications of pathogenicity Congenital factor VII deficiency, Congenital factor VII deficiency
RS2036084457 TRIM37 Health Risk Pathogenic —
RS2036093894 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS2036106218 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2036111540 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2036149054 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2036150181 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2036151723 USH2A Health Risk Pathogenic —
RS2036152207 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS2036157162 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2036159242 FHOD3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, familial hypertrophic
RS2036182701 GNAO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS2036225419 COL18A1 Health Risk Likely pathogenic —
RS2036272504 GREB1L Health Risk Pathogenic Mayer-Rokitansky-Kuster-Hauser syndrome, Renal hypodysplasia/aplasia 3
RS2036279881 NRL Health Risk Likely pathogenic Retinitis pigmentosa 27, Retinitis pigmentosa 27
RS2036306894 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS2036311953 COL18A1 Health Risk Likely pathogenic Knobloch syndrome 1, Knobloch syndrome 1
RS2036312031 COL18A1 Health Risk Pathogenic —
RS2036318355 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2036324053 CEP290 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Nephronophthisis
RS2036339787 UNC45A Health Risk Pathogenic Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome
RS2036353653 NRL Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 27
RS2036353930 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2036353932 NRL Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2036372197 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2036384866 MAMLD1 Health Risk Pathogenic —
RS2036390617 ERF Health Risk Likely pathogenic Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS2036392272 PDE6G Health Risk Pathogenic —
RS2036392683 ERF Health Risk Likely pathogenic ERF-related disorder, ERF-related disorder
RS2036398565 ERF Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2036401878 ERF Health Risk Pathogenic Inborn genetic diseases, Lambdoidal craniosynostosis
RS2036406936 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2036408587 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
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