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
RS142629239 TYR Health Risk Pathogenic —
RS1426299431 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS1426302691 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS142630687 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS142631042 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-related disorder, FLNB-related disorder
RS1426313451 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome, Usher syndrome
RS142631483 ERCC1 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4
RS142632518 TSHR Health Risk Conflicting classifications of pathogenicity —
RS142632541 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS142632567 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS1426325954 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS142633494 DHPS Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with seizures and speech and walking impairment, Clear cell carcinoma of kidney
RS142634031 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis
RS1426349276 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1426355851 FMN2 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 47
RS142635726 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS142637046 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Malignant tumor of urinary bladder
RS142637195 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS142637231 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS1426375707 PDZD7 Health Risk Pathogenic —
RS1426385729 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS142639185 ECHS1 Health Risk Conflicting classifications of pathogenicity —
RS142639223 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiomyopathy
RS142639587 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS142639688 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS142641173 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS142641513 TULP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 15
RS142641602 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5
RS142641674 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Nephropathic cystinosis
RS142641765 SLC12A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34
RS142642403 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Recurrent skin infections
RS1426424086 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS142643033 CD2AP Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 3, susceptibility to
RS1426432774 SLC34A1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive infantile hypercalcemia, Fanconi renotubular syndrome 2
RS1426447692 ACBD5 Health Risk Pathogenic/Likely pathogenic Retinal disorder, Retinal disorder
RS142645813 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142645936 PEX2 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS142646074 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCA-related disorder
RS142646143 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS142646329 SLC12A1 Health Risk Conflicting classifications of pathogenicity —
RS142646795 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS142646842 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS142647085 LEPR Health Risk Conflicting classifications of pathogenicity Obesity due to leptin receptor gene deficiency, Monogenic diabetes
RS142647978 MRTFA Health Risk Conflicting classifications of pathogenicity —
RS142648132 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS142648420 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS142648652 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS142648687 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS1426488816 PLAA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142649985 KATNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1426503452 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS142650835 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS142651194 COL7A1 Health Risk Conflicting classifications of pathogenicity Generalized dominant dystrophic epidermolysis bullosa, Familial cancer of breast
RS142652014 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142652341 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS142652443 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS1426527653 SKIC2 Health Risk Likely pathogenic —
RS1426528935 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS142653419 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS142653982 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Retinal dystrophy
RS142654744 MYH11 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
RS1426548804 HNF1A Health Risk Likely risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS142654992 INSR Health Risk Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans, Leprechaunism syndrome
RS142656144 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS142656395 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS142656757 DSG4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1426568243 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS142657029 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Inborn genetic diseases
RS142658052 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS142658261 KMT2A Health Risk Conflicting classifications of pathogenicity KMT2A-related disorder, Inborn genetic diseases
RS142658611 NDUFS8 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS142659522 MAOA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brunner syndrome
RS142660339 RALGAPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1426607594 CEP152 Health Risk Pathogenic —
RS142661420 KATNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142662480 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS142662688 CTU2 Health Risk Conflicting classifications of pathogenicity CTU2-related disorder, CTU2-related disorder
RS142663488 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS142663817 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS1426643237 INTS1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1426645898 F8 Health Risk Pathogenic —
RS142665056 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1426654 SLC24A5 Health Risk association Skin/hair/eye pigmentation, variation in
RS1426662226 MPDZ Health Risk Likely pathogenic —
RS1426666349 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS142666652 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Fibromatosis
RS142667367 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS1426673673 POLE Health Risk Conflicting classifications of pathogenicity —
RS142668032 GCK Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 2
RS142668269 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS142668478 WFS1 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Hearing impairment
RS1426687865 POLH Health Risk Pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS142669130 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS1426704853 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS142670565 LAMB1 Health Risk Pathogenic/Likely pathogenic Cobblestone lissencephaly without muscular or ocular involvement, LAMB1-related disorder
RS142670870 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1426709672 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS142671449 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS1426717081 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS142672228 ARHGAP24 Health Risk Conflicting classifications of pathogenicity —
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