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
RS770505620 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS770505872 PYCR1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive cutis laxa type 2B, Cutis laxa
RS770505969 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS770506724 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS770507436 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS770508431 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770510070 KCNH1 Health Risk Conflicting classifications of pathogenicity —
RS770510230 ABCA7 Health Risk Likely pathogenic Alzheimer disease 9, Alzheimer disease 9
RS770511500 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS770512547 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARID1B-related disorder
RS770512658 ABCC2 Health Risk Pathogenic —
RS770513014 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS770513703 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1O
RS770514781 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS770515591 DHODH Health Risk Conflicting classifications of pathogenicity Miller syndrome, Miller syndrome
RS770515802 MTOR Health Risk Conflicting classifications of pathogenicity —
RS770516401 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS770517037 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS770520414 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770520776 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS770522444 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS770522446 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS770522582 KARS1 Health Risk Pathogenic Leukoencephalopathy, progressive
RS770522674 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS770522999 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS770524066 TNFSF11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
RS770525372 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS770525487 TTN Health Risk Conflicting classifications of pathogenicity —
RS770525693 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS770525695 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS770526770 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS770527045 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS770528538 DCPS Health Risk Pathogenic Al-Raqad syndrome, Al-Raqad syndrome
RS770528613 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS770529318 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS770529851 PDE6A Health Risk Pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS770530257 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS77053118 GLE1 Health Risk Conflicting classifications of pathogenicity Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome
RS770531319 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS770532527 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770532573 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS770532605 PIBF1 Health Risk Pathogenic —
RS770532797 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, CARD9-related disorder
RS770533125 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial DNA depletion syndrome 1
RS770534863 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS770535654 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS770535800 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS770535972 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS770536697 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS770537412 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS770538630 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases
RS770538729 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS770539313 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS770539523 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Adult hypophosphatasia
RS770539575 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS770539957 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS770540128 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS770540184 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS770540338 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS770541783 MICU1 Health Risk Likely pathogenic —
RS770541943 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Inborn genetic diseases
RS770542903 SERPINF1 Health Risk Likely pathogenic SERPINF1-related disorder, SERPINF1-related disorder
RS770543738 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770544416 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS770546037 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS770546306 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS770547622 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770547722 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS770548228 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Hypophosphatasia
RS770548526 LAMB3 Health Risk Pathogenic —
RS770548816 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS770551110 SI Health Risk Conflicting classifications of pathogenicity SI-related disorder, SI-related disorder
RS770551362 TTC19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770551610 IKZF1 Health Risk Pathogenic Pancytopenia due to IKZF1 mutations, Pancytopenia due to IKZF1 mutations
RS770551687 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS770552464 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS770553471 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome type 2A
RS770554435 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS770555372 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS770556515 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS770556842 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS770557726 UPF3B Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 14, Inborn genetic diseases
RS770557781 PPARG Health Risk Pathogenic PPARG-related familial partial lipodystrophy, PPARG-related disorder
RS770557903 SLC34A1 Health Risk Likely pathogenic Fanconi renotubular syndrome 2, Fanconi renotubular syndrome 2
RS770558150 ALMS1 Health Risk Pathogenic Alstrom syndrome, Retinal dystrophy
RS770558724 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770558820 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS770560051 SPART Health Risk Pathogenic/Likely pathogenic Troyer syndrome, Troyer syndrome
RS770560831 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, Inborn genetic diseases
RS770561064 TRPM1 Health Risk Likely pathogenic —
RS770561559 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS770562664 DNAJC12 Health Risk Pathogenic/Likely pathogenic Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
RS770563158 STX11 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS770563957 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770564150 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770564593 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS770566210 TTN Health Risk Conflicting classifications of pathogenicity —
RS770566458 GBA2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS77056664 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS770566791 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
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