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
RS1428468560 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS1428469954 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS142847241 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS1428479359 CNGA1 Health Risk Pathogenic CNGA1-related disorder, CNGA1-related disorder
RS142847960 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, Inborn genetic diseases
RS1428480606 ABCG5 Health Risk Pathogenic Sitosterolemia, Sitosterolemia
RS142848358 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1428485417 TBCD Health Risk Pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS1428487333 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS142848848 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS1428489706 SPECC1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142849100 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS142850278 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS142850285 ARHGAP32 Health Risk Conflicting classifications of pathogenicity —
RS1428503249 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS1428504985 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS142850511 MYH6 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14
RS142851023 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS142851621 DSC3 Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS1428522940 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS142852982 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1428534050 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS142853738 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Inborn genetic diseases
RS142855305 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS142855690 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS142856094 SIPA1L3 Health Risk Conflicting classifications of pathogenicity —
RS142856240 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1428568299 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142857114 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS1428571249 GALC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Galactosylceramide beta-galactosidase deficiency
RS142857685 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS142857810 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS142858149 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1B
RS1428589694 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS142858990 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS142859678 SERPINB7 Health Risk Pathogenic Palmoplantar keratoderma, Nagashima type
RS142859717 AGBL5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1428597732 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1428598791 TECTA Health Risk Conflicting classifications of pathogenicity TECTA-related disorder, TECTA-related disorder
RS1428599096 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS142859913 DYNC2I2 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS142860588 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS142860816 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS1428612396 PDE6A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS142861371 CDH2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia, familial
RS1428618759 EMC1 Health Risk Pathogenic —
RS1428619789 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1428621525 SREBF1 Health Risk Likely pathogenic Hereditary mucoepithelial dysplasia, Hereditary mucoepithelial dysplasia
RS142862162 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS1428623016 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1428625375 FARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 14, Inborn genetic diseases
RS1428628208 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Melanoma
RS142863013 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Spermatogenic failure 46
RS142863074 SLC39A8 Health Risk Pathogenic SLC39A8-CDG, SLC39A8-CDG
RS142863092 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS142863840 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, SOS2-related disorder
RS142864107 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS142864437 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS142864491 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS142864589 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum
RS142864702 SEMA6B Health Risk Conflicting classifications of pathogenicity SEMA6B-related disorder, Retinal dystrophy
RS142865061 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1428653006 C8B Health Risk Pathogenic —
RS1428656431 VRK1 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS142866108 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS142866653 SLC4A1 Health Risk Conflicting classifications of pathogenicity —
RS142867197 KPTN Health Risk Conflicting classifications of pathogenicity Macrocephaly-developmental delay syndrome, Inborn genetic diseases
RS142867964 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1428679687 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS142867979 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS142868256 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS1428682980 NDUFV2 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 7
RS142869401 GYG1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS142869943 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1428700861 CYP17A1 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, Premature ovarian failure
RS142870255 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS142870382 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS1428704795 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1428716759 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Spastic tetraplegia and axial hypotonia
RS1428717797 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS142871818 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS1428719874 RP2 Health Risk Likely pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS1428720238 IL2RB Health Risk Likely pathogenic —
RS142872154 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS1428723338 FLG Health Risk Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS142873841 SLC34A3 Health Risk Conflicting classifications of pathogenicity SLC34A3-related disorder, SLC34A3-related disorder
RS1428740468 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Syndromic X-linked intellectual disability Claes-Jensen type
RS142874389 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS142874980 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS142875000 F5 Health Risk Conflicting classifications of pathogenicity Congenital factor V deficiency, Congenital factor V deficiency
RS142875103 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS142875853 LRRIQ3 Health Risk Conflicting classifications of pathogenicity —
RS142876079 PDE6C Health Risk Conflicting classifications of pathogenicity Cone dystrophy 4, Achromatopsia
RS1428762163 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1428763453 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS142877365 MYPN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1KK
RS1428775799 MAP2K1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
RS1428777126 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1428777319 HBB Health Risk Conflicting classifications of pathogenicity —
RS142877948 ATP11A Health Risk Conflicting classifications of pathogenicity ATP11A-related disorder, Inborn genetic diseases
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