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
RS767853272 MVK Health Risk Likely pathogenic Porokeratosis 3, disseminated superficial actinic type
RS767854151 SPTA1 Health Risk Likely pathogenic —
RS767855117 WASHC5 Health Risk Likely pathogenic Hereditary spastic paraplegia 8, Lung cancer
RS767855588 LOX Health Risk Conflicting classifications of pathogenicity Acute aortic dissection, Congenital aneurysm of ascending aorta
RS767856364 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS767856934 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS76785727 ADGRG7 Health Risk Conflicting classifications of pathogenicity —
RS767857665 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS767857970 EARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS767858119 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS767858255 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS767858333 DOCK1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS767858785 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS767861096 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS767861590 RYR1 Health Risk Pathogenic/Likely pathogenic Central core myopathy, RYR1-related disorder
RS767862087 FAT3 Health Risk Conflicting classifications of pathogenicity —
RS767863322 PIK3R2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
RS767864000 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS767864030 LONP1 Health Risk Conflicting classifications of pathogenicity —
RS767864225 NDUFA8 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 37
RS767864243 SLC2A10 Health Risk Pathogenic/Likely pathogenic Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS767864277 GYG2 Health Risk Conflicting classifications of pathogenicity —
RS767864356 ASAH1 Health Risk Pathogenic/Likely pathogenic Farber lipogranulomatosis, Inborn genetic diseases
RS767864936 FLNB Health Risk Conflicting classifications of pathogenicity —
RS767865405 FKTN Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS767868852 CA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS767869530 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS767871841 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS767872565 EHHADH Health Risk Conflicting classifications of pathogenicity —
RS767872954 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS767873164 COA7 Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS767873595 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS767873726 LINGO1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 64
RS767873754 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS767873861 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS767874638 ARL6IP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 61, Hereditary spastic paraplegia 61
RS767875993 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS767876357 RMND1 Health Risk Pathogenic Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
RS767877070 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS767877383 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS767877512 MOCS3 Health Risk Conflicting classifications of pathogenicity —
RS767878828 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS767879725 ELAC2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS767881914 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS767882032 CLRN1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 61, Retinitis pigmentosa 61
RS767882166 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS767882689 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS767882942 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS767883844 METTL23 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Intellectual disability
RS767884151 CD3D Health Risk Pathogenic Immunodeficiency 19, Immunodeficiency 19
RS767884283 INVS Health Risk Conflicting classifications of pathogenicity Infantile nephronophthisis, Nephronophthisis
RS767885129 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, PACS1-related disorder
RS767885426 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder
RS767885673 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS767886246 LZTR1 Health Risk Conflicting classifications of pathogenicity —
RS767886377 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS767886794 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS767887086 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS767887213 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Kidney disorder
RS767888884 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS767889030 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS767889061 CD40LG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS767889331 LAMA1 Health Risk Pathogenic Inborn genetic diseases, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS767889610 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS767890385 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS767890671 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS767892925 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS767894453 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS767896302 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS767897278 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS767898276 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS767898415 NOX1 Health Risk Conflicting classifications of pathogenicity NOX1-related disorder, NOX1-related disorder
RS767898820 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS767899043 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS767899169 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS767899188 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767900062 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS767900430 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS767900879 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Progressive familial heart block type IB
RS767901025 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS767901194 CENPF Health Risk Likely pathogenic Stromme syndrome, Stromme syndrome
RS767901253 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS767901695 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS767902029 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS767902787 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS767902943 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS767903021 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS767903280 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS767903412 SOS1 Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS767903764 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
RS767903893 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 1, Senior-Loken syndrome 1
RS767904039 AMHR2 Health Risk Pathogenic/Likely pathogenic Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome
RS767904247 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS767904889 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767904893 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS767904913 CNGA3 Health Risk Pathogenic —
RS767905237 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS767905306 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS767905417 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, DiGeorge syndrome
RS767905644 ARL13B Health Risk Pathogenic Joubert syndrome 8, Joubert syndrome 8
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