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
RS1647187648 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647187729 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647188308 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647188440 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647188699 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647189225 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647214301 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647277529 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1647346476 PKLR Health Risk Likely pathogenic PKLR-related disorder, PKLR-related disorder
RS1647353051 PKLR Health Risk Likely pathogenic —
RS1647454047 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Inborn genetic diseases
RS1647480996 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647481193 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647485086 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647490038 ORC1 Health Risk Pathogenic Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS1647527499 PKLR Health Risk Likely pathogenic —
RS1647538523 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS1647569895 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1647617368 CASQ2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1647698933 MACF1 Health Risk Conflicting classifications of pathogenicity —
RS1647699293 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS1647734130 TOR1AIP1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS1647805941 NTRK1 Health Risk Pathogenic/Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1647819392 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS1647858636 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1647865251 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647873033 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1647923012 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1647927494 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Familial medullary thyroid carcinoma
RS1647932465 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1647935062 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS1647940325 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1647942239 ACBD6 Health Risk Pathogenic Neurodevelopmental disorder with progressive movement abnormalities, Neurodevelopmental disorder with progressive movement abnormalities
RS1647993845 TOR1AIP1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS1648034747 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1648095119 NTRK1 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1648137997 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1648146789 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1648159596 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1648162011 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1648166006 RBM8A Health Risk Likely pathogenic Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
RS1648170217 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1648175536 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1648185461 RBM8A Health Risk Pathogenic Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
RS1648206560 KCNQ4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS1648248318 KCNQ4 Health Risk Likely pathogenic —
RS1648253157 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1648391557 NPHP4 Health Risk Pathogenic Nephronophthisis 4, Nephronophthisis 4
RS1648444864 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1648457474 TOR1AIP1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS1648544786 TOR1AIP1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS1648612559 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Seizure
RS1648622680 KCNJ10 Health Risk Likely pathogenic EAST syndrome, EAST syndrome
RS1648624751 KCNJ10 Health Risk Pathogenic EAST syndrome, EAST syndrome
RS1648636515 KCNQ4 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS1648657739 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1648659458 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1648666311 GNAI3 Health Risk Likely pathogenic —
RS1648707586 GORAB Health Risk Pathogenic —
RS1648727775 GORAB Health Risk Likely pathogenic —
RS1648733523 WARS2 Health Risk Likely pathogenic Parkinsonism-dystonia 3, childhood-onset
RS1648754113 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1648809005 PIK3CD Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS1648824675 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1648825926 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1648830820 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1648831627 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1648832398 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1648832587 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1648840773 PIK3CD Health Risk Likely pathogenic Immunodeficiency 14, Immunodeficiency 14
RS1648861791 GDAP2 Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive 27
RS1648909681 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1649037695 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1649047546 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1649066485 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1649067817 NOTCH2 Health Risk Pathogenic/Likely pathogenic Hajdu-Cheney syndrome, NOTCH2-related disorder
RS1649084282 NOTCH2 Health Risk Pathogenic Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation
RS1649088431 NOTCH2 Health Risk Likely pathogenic Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation
RS1649134213 NOTCH2 Health Risk Pathogenic NOTCH2-related disorder, Hajdu-Cheney syndrome
RS1649150256 TBX19 Health Risk Pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS1649153115 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS1649258525 GORAB Health Risk Pathogenic —
RS1649314295 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1649424538 SPTA1 Health Risk Pathogenic/Likely pathogenic Elliptocytosis 2, Elliptocytosis 2
RS1649431626 DRAM2 Health Risk Pathogenic —
RS1649449471 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1649457143 KCNA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32
RS1649470988 KCNA2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32
RS1649473972 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS1649509389 KCNA2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32
RS1649513909 KCNA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32
RS1649516067 GNAT2 Health Risk Conflicting classifications of pathogenicity Achromatopsia 4, Achromatopsia 4
RS1649583816 GNAT2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1649593824 PPT1 Health Risk Pathogenic —
RS1649597261 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1649619197 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1649695841 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649696391 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649709575 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649714371 LMNA Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutation
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