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
RS759395776 RUNX2 Health Risk Conflicting classifications of pathogenicity —
RS759395960 CRLS1 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 57, Combined oxidative phosphorylation deficiency 57
RS759396688 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, ASL-related disorder
RS759398314 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS759398718 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS759399965 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS759399972 STK26 Health Risk Conflicting classifications of pathogenicity —
RS759401797 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS759401811 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS759402659 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS759402903 NPHS2 Health Risk Pathogenic —
RS759403120 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS759403157 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS759403198 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, COL18A1-related disorder
RS759403525 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759403696 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS759405296 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS759405317 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS759405378 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS759407337 PRORP Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency 54, Combined oxidative phosphorylation deficiency 54
RS759407659 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS759408031 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS759408401 RAB23 Health Risk Conflicting classifications of pathogenicity RAB23-related Carpenter syndrome, Carpenter syndrome
RS759408749 CLDN10 Health Risk Pathogenic HELIX syndrome, HELIX syndrome
RS759408917 ALS2 Health Risk Pathogenic Amyotrophic lateral sclerosis, Infantile-onset ascending hereditary spastic paralysis
RS759409255 CACNA1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759410076 BEST1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy
RS759410438 SLC16A2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS759411189 SLC45A2 Health Risk Pathogenic Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5
RS759411705 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS759412123 GALK1;ITGB4 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS759412460 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, Medulloblastoma
RS759412489 RP1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759413136 SLC20A2 Health Risk Pathogenic —
RS759413488 PFKM Health Risk Conflicting classifications of pathogenicity PFKM-related disorder, Glycogen storage disease
RS759413622 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS759414143 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS759414746 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS759414956 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS759415233 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Malignant tumor of breast
RS759415304 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS759415396 BRWD3 Health Risk Conflicting classifications of pathogenicity BRWD3-related disorder, BRWD3-related disorder
RS759415592 TRAPPC11 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS759416152 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS759416272 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS759416890 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS759417413 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS759417883 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Donnai-Barrow syndrome
RS759420180 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS759420443 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS75942058 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, DBH-related disorder
RS759421771 FREM2 Health Risk Likely pathogenic —
RS759423600 BMPR1B Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 3, Type A2 brachydactyly
RS759423683 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS759424465 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS759425304 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS759425597 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759426055 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS759427122 SLC39A7 Health Risk Conflicting classifications of pathogenicity —
RS759427879 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
RS759428204 SKIC2 Health Risk Pathogenic —
RS759428783 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS759430430 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases
RS759430551 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS759430873 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS759431249 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS759432194 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS759432278 MPZL2 Health Risk Pathogenic Hearing loss, autosomal recessive 111
RS759432455 FZD4 Health Risk Likely pathogenic Familial exudative vitreoretinopathy, Familial exudative vitreoretinopathy
RS759432675 GORAB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759432908 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS759433028 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS759433119 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinal dystrophy
RS759434738 FBLN5 Health Risk Conflicting classifications of pathogenicity Tip-toe gait, Tip-toe gait
RS759435977 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS759436020 PDGFRB Health Risk Conflicting classifications of pathogenicity Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Basal ganglia calcification
RS759436987 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS759437344 ABCB7 Health Risk Conflicting classifications of pathogenicity ABCB7-related disorder, Inborn genetic diseases
RS759438521 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS759439479 PKHD1 Health Risk Likely pathogenic —
RS759439688 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS759439914 COL4A4 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS759441164 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS759441332 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS759442213 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS759442615 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS759443302 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS759445496 ADA Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS759447711 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS759448397 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS759448571 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS759448855 GLI1 Health Risk Likely pathogenic —
RS759449685 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS759449765 MANBA Health Risk Pathogenic/Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS759451054 DMXL2 Health Risk Conflicting classifications of pathogenicity —
RS759451349 SPG11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 11
RS759451802 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759452074 SCO2 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS759452442 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759452636 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
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