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
RS2034511189 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2034516672 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034524807 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034533882 LOXHD1 Health Risk Pathogenic —
RS2034543510 RARA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2034556621 ANKRD11 Health Risk Pathogenic —
RS2034558502 ANKRD11 Health Risk Pathogenic —
RS2034558794 EIF2AK4 Health Risk Pathogenic EIF2AK4-related disorder, EIF2AK4-related disorder
RS2034559427 ANKRD11 Health Risk Pathogenic KBG syndrome, ANKRD11-related disorder
RS2034569713 ANKRD11 Health Risk Pathogenic —
RS2034579427 CEP290 Health Risk Likely pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS2034579709 CEP290 Health Risk Likely pathogenic Joubert syndrome 5, Senior-Loken syndrome 6
RS2034580235 ANKRD11 Health Risk Pathogenic —
RS2034590529 ANKRD11 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2034595868 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2034603657 PIGN Health Risk Pathogenic —
RS203462 AKAP10 Health Risk Conflicting classifications of pathogenicity Reclassified - variant of unknown significance, AKAP10-related disorder
RS2034628748 TAF1 Health Risk Likely pathogenic Heart, malformation of
RS2034656569 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2034677583 TAF1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2034681207 IFT140 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2034687381 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2034687450 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2034687815 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome
RS2034687946 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2034688425 USH2A Health Risk Pathogenic —
RS2034698276 GNPTG Health Risk Likely pathogenic —
RS2034704908 GJC2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS2034739931 IFT140 Health Risk Likely pathogenic Retinal dystrophy, Saldino-Mainzer syndrome
RS2034747055 IFT140 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Saldino-Mainzer syndrome
RS2034767360 ATR Health Risk Likely pathogenic —
RS2034767520 ATR Health Risk Pathogenic —
RS2034773072 NALCN Health Risk Pathogenic —
RS2034773322 NALCN Health Risk Likely pathogenic —
RS2034805244 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2034823903 KCNK4 Health Risk Conflicting classifications of pathogenicity Facial dysmorphism, hypertrichosis
RS2034829087 ATR Health Risk Pathogenic —
RS2034835255 ATR Health Risk Pathogenic —
RS2034841317 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2034844971 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
RS2034846986 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
RS2034849647 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS2034850724 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS2034852728 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome
RS2034854568 USH2A Health Risk Pathogenic —
RS2034895916 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS2034899344 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2034899784 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2034900559 USH2A Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS2034901738 USH2A Health Risk Pathogenic —
RS2034905123 USH2A Health Risk Pathogenic —
RS2034907262 USH2A Health Risk Pathogenic —
RS2034908088 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2034908815 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2034909771 TPM1 Health Risk Likely pathogenic —
RS2034911718 TPM1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Cardiovascular phenotype
RS2034915223 NALCN Health Risk Likely pathogenic —
RS2034916882 GNPTG Health Risk Likely pathogenic —
RS2034919426 GNPTG Health Risk Pathogenic —
RS2034926616 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS2034934856 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2034937106 USH2A Health Risk Conflicting classifications of pathogenicity —
RS2034937352 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2034938612 USH2A Health Risk Pathogenic —
RS2034938852 USH2A Health Risk Pathogenic/Likely pathogenic USH2A-related disorder, Retinitis pigmentosa 39
RS2034940102 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS2034941445 USH2A Health Risk Pathogenic —
RS2034941684 GNPTG Health Risk Pathogenic —
RS2034944843 USH2A Health Risk Pathogenic —
RS2034946086 USH2A Health Risk Pathogenic —
RS2034947671 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2034948574 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2A
RS2034949292 USH2A Health Risk Pathogenic —
RS2034950420 USH2A Health Risk Pathogenic —
RS2034951427 USH2A Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 2A
RS2034987478 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
RS2034988017 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
RS2034990430 TAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS2035000908 ANKRD11 Health Risk Likely pathogenic —
RS2035018293 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2035028859 ANKRD11 Health Risk Likely pathogenic Chromatinopathy, Chromatinopathy
RS2035039338 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2035067825 PIEZO2 Health Risk Pathogenic Arthrogryposis, distal
RS2035114607 CEP290 Health Risk Pathogenic Joubert syndrome 5, Intellectual disability
RS2035124136 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2035139741 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2035163592 PIEZO2 Health Risk Pathogenic —
RS2035180096 TGFB3 Health Risk Likely pathogenic Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2035184283 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS2035187622 NALCN Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS2035218747 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2035219369 PIEZO2 Health Risk Pathogenic Gordon syndrome, Gordon syndrome
RS2035236903 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2035287277 TGFB3 Health Risk Pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2035287906 TGFB3 Health Risk Likely pathogenic Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1
RS2035293928 COL18A1 Health Risk Pathogenic Knobloch syndrome, Hereditary glaucoma
RS2035294180 TGFB3 Health Risk Conflicting classifications of pathogenicity TGFB3-related connective tissue disorders, Rienhoff syndrome
RS2035295129 TGFB3 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 1, Arrhythmogenic right ventricular dysplasia 1
RS2035295556 LRRK1 Health Risk Pathogenic —
RS2035305918 COL18A1 Health Risk Pathogenic Hereditary glaucoma, primary closed-angle
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