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
RS780941782 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS780942888 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS780943695 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Glioma susceptibility 2
RS780944776 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS780944919 OSGEP Health Risk Likely pathogenic Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
RS780946471 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS780948319 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780948835 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS780950161 ABCA4 Health Risk Pathogenic —
RS780950595 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS780950819 CYP27B1 Health Risk Pathogenic Vitamin D-dependent rickets, type 1
RS780952576 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS780953141 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS780953179 TPRN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 79
RS780953224 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS780953863 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Tip-toe gait
RS780954447 CEP290 Health Risk Pathogenic/Likely pathogenic CEP290-related disorder, Nephronophthisis
RS780955130 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS780955218 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS780955932 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780956029 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 3
RS780956158 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS780957202 SON Health Risk Conflicting classifications of pathogenicity —
RS780957515 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS780957696 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS780957825 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS780958012 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, SCN1B-related disorder
RS780958269 TCF20 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases
RS780959390 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS780959736 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Inborn genetic diseases
RS780960251 PRSS56 Health Risk Pathogenic Isolated microphthalmia 6, Isolated microphthalmia 6
RS780960812 DEPDC5 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS780960909 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS780961189 KHK Health Risk Conflicting classifications of pathogenicity Essential fructosuria, Essential fructosuria
RS780961773 CNGB1 Health Risk Pathogenic —
RS780963454 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4
RS780964098 AUH Health Risk Likely pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS780965515 IFT140 Health Risk Likely pathogenic Retinitis pigmentosa, Renal cyst
RS780965895 ERCC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780966428 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS780966618 NEFH Health Risk Conflicting classifications of pathogenicity NEFH-related disorder, NEFH-related disorder
RS780967715 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS780968378 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS780968730 TANC2 Health Risk Likely pathogenic Intellectual Disability with multiple congenital anomalies, Intellectual Disability with multiple congenital anomalies
RS780969040 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS780970120 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS780970538 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780972853 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS780972896 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS780972997 COMP Health Risk Conflicting classifications of pathogenicity —
RS780973141 RNF168 Health Risk Pathogenic —
RS780975680 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS780976048 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS780976880 MEFV Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial Mediterranean fever
RS780977054 PNPO Health Risk Likely pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS780978066 MAK Health Risk Likely pathogenic Retinitis pigmentosa 62, Retinitis pigmentosa 62
RS780978419 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS780978963 UQCRC1 Health Risk Pathogenic Parkinsonism with polyneuropathy, Parkinsonism with polyneuropathy
RS780979988 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS780980532 SLC26A4 Health Risk Pathogenic —
RS780981335 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS780982522 MYO5B Health Risk Pathogenic —
RS780982673 IRS4 Health Risk Pathogenic/Likely pathogenic Hypothyroidism, congenital
RS780982767 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS780984632 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TCF20-related disorder
RS78098482 RET Health Risk risk factor Hirschsprung disease, susceptibility to
RS780987516 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Ear malformation
RS780987528 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS780988648 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS780990131 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS780990272 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS780990429 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS780991031 SYNE1 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia, Autosomal recessive ataxia
RS780991637 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS78099169 FBXO7 Health Risk Pathogenic/Likely pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS780993667 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS780993677 FBN1 Health Risk Conflicting classifications of pathogenicity Heart disease, Marfan syndrome
RS780994047 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS780994590 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780995803 PNPLA6 Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS780996751 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS780997405 FOXP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780998300 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS781000475 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS781001180 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781001810 OCA2 Health Risk Pathogenic —
RS781002536 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS781003161 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS781003757 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 40
RS781003927 RASGRP2 Health Risk Likely pathogenic Abnormal platelet aggregation, Abnormal platelet aggregation
RS781004578 CAPN1 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS781004589 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
RS781006180 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS781006387 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS781006633 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS781006740 ERCC3 Health Risk Pathogenic —
RS781009014 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS781010619 VANGL1 Health Risk Conflicting classifications of pathogenicity Sacral defect with anterior meningocele, Neural tube defect
RS781011621 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS781012274 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
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