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
RS34119065 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS34120190 MBL2 Health Risk Conflicting classifications of pathogenicity Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
RS34120922 NBN Health Risk Pathogenic/Likely pathogenic Aplastic anemia, Microcephaly
RS34122078 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2
RS34124242 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, ATR-related disorder
RS34124941 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS34126013 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS34126315 HBB Health Risk Conflicting classifications of pathogenicity —
RS34129005 IGF1R Health Risk Conflicting classifications of pathogenicity —
RS34130975 LEPR Health Risk Conflicting classifications of pathogenicity Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency
RS34133563 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS34134064 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS34134328 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder
RS34135787 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS34135972 BLNK Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 4, autosomal recessive
RS34139950 C1QA Health Risk Pathogenic C1Q deficiency, C1Q deficiency
RS34141362 KIDINS220 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, intellectual disability
RS34141917 ZNF407 Health Risk Conflicting classifications of pathogenicity ZNF407-related disorder, ZNF407-related disorder
RS34146052 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS34150443 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, TMPO-related disorder
RS34151474 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS34157149 MCM4 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, MCM4-related disorder
RS34159654 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Mucopolysaccharidosis
RS34160180 HBB Health Risk Pathogenic Hemoglobinopathy, Hemoglobinopathy
RS34161232 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS34161326 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS34165323 HBB Health Risk Pathogenic Hemoglobinopathy, 8 conditions
RS34165480 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS34169786 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS34170727 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS34171453 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS34174718 TUBB3 Health Risk Conflicting classifications of pathogenicity TUBB3-related disorder, TUBB3-related disorder
RS34177347 CLIP1 Health Risk Conflicting classifications of pathogenicity Sarcoma, Sarcoma
RS34181110 MTHFD1 Health Risk Conflicting classifications of pathogenicity Spina bifida, folate-sensitive
RS34181302 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS34189316 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS34190279 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS34191306 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS34193178 G6PD Health Risk Conflicting classifications of pathogenicity G6PD deficiency, Anemia
RS34194489 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS34196559 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, beta Thalassemia
RS34200464 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS34206069 MCM4 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
RS34207306 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, 3MC syndrome 1
RS34208370 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder
RS34211240 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS34213726 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS34214309 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS34216426 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder
RS34218908 HBB Health Risk Pathogenic/Likely pathogenic beta Thalassemia, beta Thalassemia
RS34220980 HBA1 Health Risk Pathogenic Erythrocytosis, familial
RS34224064 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 1
RS34224604 HBD Health Risk Pathogenic Delta-0-thalassemia, Delta-0-thalassemia
RS34224785 SLC4A11 Health Risk Conflicting classifications of pathogenicity Posterior polymorphous corneal dystrophy 1, Corneal dystrophy
RS34226296 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS34227547 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease
RS34227834 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS34231402 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS34236392 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome
RS34237929 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS34238319 PGM3 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 23, Immunodeficiency 23
RS34238807 CLN8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS34238989 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS34239530 FGL1 Health Risk Conflicting classifications of pathogenicity —
RS34239729 GSS Health Risk Conflicting classifications of pathogenicity Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS34245038 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS34245321 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS34246477 PIEZO1 Health Risk Conflicting classifications of pathogenicity Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RS34248551 ZFPM2 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 9
RS34248917 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS34254740 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS34256013 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, ADAMTS13-related disorder
RS34256381 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS34258482 MMACHC Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease
RS34261028 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS34263845 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS34271731 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS34275677 MBD4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS34279942 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases
RS34282684 HBB Health Risk Pathogenic beta Thalassemia, 9 conditions
RS34282765 STX11 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS34283928 TUFM Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 4, Inborn genetic diseases
RS34291397 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS34292387 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS34295337 ERCC3 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group B, Xeroderma pigmentosum
RS34295987 LMF1 Health Risk Conflicting classifications of pathogenicity Lipase deficiency, combined
RS34301677 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS34305195 HBB Health Risk Pathogenic/Likely pathogenic beta Thalassemia, BETA-PLUS-THALASSEMIA
RS34306618 GPI Health Risk Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS34309090 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS34309943 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS34312619 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS34313388 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Nemaline myopathy 5
RS34313885 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS34314610 COL4A5 Health Risk Pathogenic —
RS34314728 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS34315917 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS34316445 FBXO7 Health Risk Conflicting classifications of pathogenicity Parkinsonian-pyramidal syndrome, FBXO7-related disorder
RS34319539 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS34322868 CCN6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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