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
RS1571416477 PBX1 Health Risk Pathogenic —
RS1571416623 PBX1 Health Risk Pathogenic —
RS1571418365 PPOX Health Risk Likely pathogenic Variegate porphyria, Variegate porphyria
RS1571418855 TPM3 Health Risk Likely pathogenic Congenital myopathy 4B, autosomal recessive
RS1571427781 POGZ Health Risk Pathogenic —
RS1571431063 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1571431145 PBX1 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1571436535 SPTA1 Health Risk Likely pathogenic Hemolytic anemia, Hemolytic anemia
RS1571445295 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1571456678 TPM3 Health Risk Likely pathogenic Congenital myopathy 4B, autosomal recessive
RS1571464589 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1571470447 POGZ Health Risk Pathogenic —
RS1571488364 FLAD1 Health Risk Likely pathogenic —
RS1571522690 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Retinitis pigmentosa 12
RS1571523319 CRB1 Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1571523755 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571524102 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Leber congenital amaurosis 8
RS1571524269 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571524490 ST3GAL3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1571525145 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1571525390 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571530029 LAMC2 Health Risk Pathogenic —
RS1571530070 SPTA1 Health Risk Likely pathogenic Pyropoikilocytosis, hereditary
RS1571531732 SLC19A2 Health Risk Pathogenic —
RS1571532822 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS1571533545 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1571535301 LAMC2 Health Risk Pathogenic —
RS1571537544 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS1571537879 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS1571538391 LAMC2 Health Risk Likely pathogenic —
RS1571540037 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1571540258 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis 8
RS1571544281 CRB1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1571544334 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 12
RS1571557821 PKP1 Health Risk Pathogenic Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
RS1571557864 CRB1 Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 8
RS1571563202 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS1571563769 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Spastic paraplegia
RS1571564381 PKP1 Health Risk Pathogenic Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
RS1571564812 CRB1 Health Risk Conflicting classifications of pathogenicity Pigmented paravenous retinochoroidal atrophy, Retinitis pigmentosa 12
RS1571569884 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS1571572235 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571572316 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1571574574 F5 Health Risk Likely pathogenic Factor V deficiency, Factor V deficiency
RS1571575520 F5 Health Risk Pathogenic/Likely pathogenic Factor V deficiency, Congenital factor V deficiency
RS1571575523 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS1571577365 F5 Health Risk Pathogenic/Likely pathogenic Factor V deficiency, Thrombophilia due to activated protein C resistance
RS1571578995 F5 Health Risk Likely pathogenic Factor V deficiency, Factor V deficiency
RS1571581722 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Congenital factor V deficiency
RS1571587012 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS1571588257 CD46 Health Risk Pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
RS1571596976 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1571599902 ASPM Health Risk Pathogenic —
RS1571600045 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1571600860 ASPM Health Risk Pathogenic Microcephaly 1, primary
RS1571601267 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS1571602542 ASPM Health Risk Pathogenic —
RS1571602991 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1571603072 DDX59 Health Risk Likely pathogenic Orofaciodigital syndrome V, Orofaciodigital syndrome V
RS1571608729 TNNT2 Health Risk Likely pathogenic —
RS1571616755 CD46 Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
RS1571616951 ASPM Health Risk Likely pathogenic —
RS1571617647 CD46 Health Risk Pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
RS1571623023 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571626731 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1571627006 TNNT2 Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS1571627587 TNNT2 Health Risk Pathogenic Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS1571630284 ASPM Health Risk Pathogenic —
RS1571636501 KCND3 Health Risk Pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS1571636508 KCND3 Health Risk Pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS1571649028 DOCK7 Health Risk Likely pathogenic —
RS1571652012 REN Health Risk Pathogenic/Likely pathogenic Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis of genetic origin
RS1571655768 POMGNT1 Health Risk Likely pathogenic Muscle eye brain disease, Muscle eye brain disease
RS1571657777 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1571657875 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1571659306 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1571668556 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinal dystrophy
RS1571672866 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1571681377 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571685736 NTRK1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis
RS1571685765 NTRK1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1571686349 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1571689751 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS1571690112 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1571695851 NTRK1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis
RS1571696060 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1571699664 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1571699945 NTRK1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis
RS1571701069 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2A
RS1571701072 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1571701243 USH2A Health Risk Pathogenic —
RS1571702193 USH2A Health Risk Pathogenic —
RS1571703770 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1571703801 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS1571706279 CENPF Health Risk Likely pathogenic —
RS1571707321 CENPF Health Risk Likely pathogenic Stromme syndrome, Stromme syndrome
RS1571715796 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571735403 TOR1AIP1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS1571762632 USH2A Health Risk Likely pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1571774019 USH2A Health Risk Pathogenic USH2A-related disorder, USH2A-related disorder
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