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
RS200717752 SETD1B Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with seizures and language delay, Inborn genetic diseases
RS200718262 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS200718357 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Vesicoureteral reflux 8
RS200718690 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS200718841 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS200718870 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS200718883 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, SBF1-related disorder
RS200719111 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS200719174 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS200719329 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS200719359 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS200719516 CACNA1B Health Risk Conflicting classifications of pathogenicity CACNA1B-related disorder, Complex neurodevelopmental disorder with motor features
RS200719553 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Inborn genetic diseases
RS200719554 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia
RS200720013 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 7
RS200720222 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200720598 RP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinitis pigmentosa 2
RS200720726 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS200721645 RNASEH2B Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS200721681 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Hemochromatosis type 2A
RS200721739 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS200721800 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS200722080 MYOF Health Risk Conflicting classifications of pathogenicity —
RS200722246 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS200722491 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS200722892 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200722918 DHTKD1 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS200722937 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200723165 OBSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200723435 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200723469 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200723797 KASH5 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Premature ovarian failure 22
RS200724087 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS200724195 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity —
RS200724225 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS200724231 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, SEPN1-related disorder
RS200724468 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS200724860 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200724875 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases
RS200724937 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS200725014 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS200725272 MOCOS Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Xanthinuria type II
RS200726100 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS200726108 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS200726484 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS200726531 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS200726600 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Neuronopathy
RS200726948 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tibial muscular dystrophy
RS200727113 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS200727145 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS200727566 ELAC2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS200727689 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS200727790 SLURP1 Health Risk Likely pathogenic —
RS200728232 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200728879 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
RS200728983 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS200729108 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 2
RS200729445 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS200729621 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS200729812 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS200730202 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS200730225 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS200730342 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Cutis laxa
RS200730608 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS200730708 TPM2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS200730765 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS200730851 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS200731095 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS200731330 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS200731335 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Inborn genetic diseases
RS200731501 PLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200731653 NALCN;NALCN-AS1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Inborn genetic diseases
RS200731840 PXDN Health Risk Pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS200731870 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS200732002 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200732032 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200732314 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS200732790 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related disorder, Inborn genetic diseases
RS200732832 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS200732890 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H
RS200733182 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS200733269 WNT10A Health Risk Conflicting classifications of pathogenicity Schöpf-Schulz-Passarge syndrome, Tooth agenesis
RS200733310 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS200733607 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS200733697 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Inborn genetic diseases
RS200733704 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS200733734 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS200733882 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS200734621 TRPM6 Health Risk Pathogenic —
RS200735098 SLC26A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
RS200735162 BICRA Health Risk Conflicting classifications of pathogenicity —
RS200735240 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS200735610 POLR1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200735789 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS200735877 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, NSD1-related disorder
RS200735885 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Optic nerve hypoplasia
RS200736325 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS200736514 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
RS200736669 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy
RS200737038 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Inborn genetic diseases
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