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
RS1655391926 SEMA4A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1655397950 KDM5B Health Risk Pathogenic —
RS1655517675 FMO3 Health Risk Pathogenic —
RS1655521504 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1655612629 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1655690067 KDM5B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1655719165 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1655731489 FMO3 Health Risk Pathogenic —
RS1655736013 FMO3 Health Risk Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS1655753199 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS1655775567 SZT2 Health Risk Likely pathogenic —
RS1655824699 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1655825221 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1655828678 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1655833195 COL11A1 Health Risk Pathogenic/Likely pathogenic —
RS1655878450 SZT2 Health Risk Pathogenic —
RS1655881883 ASH1L Health Risk Pathogenic —
RS1655882215 FMO3 Health Risk Pathogenic —
RS1655927823 SZT2 Health Risk Pathogenic —
RS1655966037 CD46 Health Risk Pathogenic —
RS1656161931 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1656163649 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1656200306 FMO3 Health Risk Pathogenic Trimethylaminuria, Trimethylaminuria
RS1656251554 GLMN Health Risk Likely pathogenic Glomuvenous malformation, Glomuvenous malformation
RS1656295216 PIGK Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
RS1656300594 KDM5B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1656338337 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS1656391998 PIGK Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
RS1656392054 PIGK Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
RS1656408131 USH2A Health Risk Pathogenic —
RS1656416727 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1656419435 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome type 2
RS1656506214 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1656591590 EGLN1 Health Risk Pathogenic Erythrocytosis, familial
RS1656640356 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1656646221 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1656646424 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1656647155 USH2A Health Risk Pathogenic —
RS1656706610 TGFB2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS1656796807 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS1656826074 NOS1AP Health Risk Pathogenic Nephrotic syndrome, type 22
RS1656851989 PRG4 Health Risk Conflicting classifications of pathogenicity Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS1656892077 USH2A Health Risk Pathogenic —
RS1656901821 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinal dystrophy
RS1656936749 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1656938047 USH2A Health Risk Pathogenic —
RS1656942613 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Monogenic hearing loss
RS1656943603 USH2A Health Risk Pathogenic —
RS1656944247 USH2A Health Risk Pathogenic —
RS1656958874 CD46 Health Risk Likely pathogenic —
RS1657010162 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS1657029417 USH2A Health Risk Pathogenic —
RS1657036615 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinal dystrophy
RS1657042446 USH2A Health Risk Likely pathogenic —
RS1657198788 ASPM Health Risk Pathogenic —
RS1657235121 PRG4 Health Risk Likely pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS1657248003 ASPM Health Risk Pathogenic —
RS1657341426 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS1657345576 EDARADD Health Risk Pathogenic Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type
RS1657367896 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1657371141 PRG4 Health Risk Likely pathogenic —
RS1657377652 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS1657525413 CENPF Health Risk Likely pathogenic Cystinuria, Cystinuria
RS1657533128 POGZ Health Risk Pathogenic/Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1657541606 POGZ Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1657564568 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1657568800 IARS2 Health Risk Pathogenic —
RS1657570765 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy
RS1657694750 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1657717722 FLAD1 Health Risk Likely pathogenic —
RS1657723514 FLAD1 Health Risk Pathogenic Myopathy with abnormal lipid metabolism, Myopathy with abnormal lipid metabolism
RS1657737496 OPTN Health Risk Pathogenic/Likely pathogenic Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12
RS1657743081 SERPINC1 Health Risk Pathogenic/Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1657782821 CENPF Health Risk Likely pathogenic Stromme syndrome, Stromme syndrome
RS1657796004 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1657798642 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1657799383 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1657799720 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1657800056 USH2A Health Risk Pathogenic —
RS1657805631 USH2A Health Risk Pathogenic —
RS1657805957 USH2A Health Risk Pathogenic —
RS1657810994 FLAD1 Health Risk Pathogenic —
RS1657824312 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1657829644 POMGNT1 Health Risk Pathogenic/Likely pathogenic —
RS1657837348 PEX19 Health Risk Likely pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS1657858393 PEX11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1657864516 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1657873534 PEX19 Health Risk Pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder
RS1657877888 RAB3GAP2 Health Risk Likely pathogenic Martsolf syndrome, Martsolf syndrome
RS1657881990 AMPD1 Health Risk Likely pathogenic Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS1657900739 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1657901999 H3-3A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Bryant-Li-Bhoj neurodevelopmental syndrome 1
RS1657903750 H3-3A Health Risk Likely pathogenic Inborn genetic diseases, H3-3A-related disorder
RS1657904113 H3-3A Health Risk Likely pathogenic Neurodevelopmental disorder, Bryant-Li-Bhoj neurodevelopmental syndrome 1
RS1657908048 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1657909645 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1657911759 USH2A Health Risk Pathogenic Ear malformation, Ear malformation
RS1657913203 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1657920193 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1657921221 USH2A Health Risk Pathogenic —
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