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
RS587776613 ELOVL4 Health Risk Pathogenic Stargardt disease 3, Stargardt disease 3
RS587776614 ALX4 Health Risk Pathogenic Parietal foramina 2, Parietal foramina 2
RS587776615 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis, distal
RS587776616 ATP6V0A4 Health Risk Pathogenic Renal tubular acidosis, distal
RS587776617 ATP6V0A4 Health Risk Pathogenic Renal tubular acidosis, distal
RS587776619 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS587776620 SYCP3 Health Risk Pathogenic Spermatogenic failure 4, Spermatogenic failure 4
RS587776621 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS587776622 MLH3 Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Colorectal cancer
RS587776623 ADGRG1 Health Risk Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS587776624 ADGRG1 Health Risk Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS587776625 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Polymicrogyria
RS587776626 PHOX2B Health Risk Pathogenic Congenital central hypoventilation, Haddad syndrome
RS587776627 AXIN1 Health Risk Pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS587776628 PTCH2 Health Risk Pathogenic Basal cell carcinoma, somatic
RS587776629 SCO1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 4
RS587776630 BCL10 Health Risk Pathogenic Mucosa-associated lymphoma, Mucosa-associated lymphoma
RS587776631 BCL10 Health Risk Pathogenic Mucosa-associated lymphoma, Mucosa-associated lymphoma
RS587776632 BCL10 Health Risk Pathogenic Follicular lymphoma, Sezary syndrome
RS587776633 BCL10 Health Risk Pathogenic Follicular lymphoma, Follicular lymphoma
RS587776634 BCL10 Health Risk Pathogenic Follicular lymphoma, Follicular lymphoma
RS587776635 BCL10 Health Risk Pathogenic Follicular lymphoma, Follicular lymphoma
RS587776636 BCL10 Health Risk Pathogenic Follicular lymphoma, Follicular lymphoma
RS587776637 BCL10 Health Risk Pathogenic Follicular lymphoma, Follicular lymphoma
RS587776640 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS587776641 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS587776642 BUB1 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS587776643 PRKAG2 Health Risk Pathogenic Hypertrophic cardiomyopathy 6, Hypertrophic cardiomyopathy 6
RS587776644 SDHD Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma
RS587776645 SDHD Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1
RS587776646 SDHD Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1
RS587776648 SDHD Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 1, Carney-Stratakis syndrome
RS587776649 SDHD Health Risk Pathogenic Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome
RS587776650 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS587776651 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Inborn genetic diseases
RS587776652 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS587776653 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome
RS587776654 CTSC Health Risk Pathogenic Papillon-Lefèvre syndrome, Papillon-Lefèvre syndrome
RS587776655 CTSC Health Risk Pathogenic Papillon-Lefèvre syndrome, Haim-Munk syndrome
RS587776656 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS587776657 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS587776658 STK11 Health Risk Pathogenic/Likely pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS587776659 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS587776660 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS587776661 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS587776662 LHX4 Health Risk Pathogenic Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
RS587776663 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS587776664 HESX1 Health Risk Pathogenic PITUITARY HORMONE DEFICIENCY, COMBINED
RS587776665 CASP8 Health Risk Pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS587776666 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS587776667 PTEN Health Risk Pathogenic Endometrial carcinoma, Cowden syndrome 1
RS587776669 PTEN Health Risk Likely pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS587776670 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS587776671 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS587776672 PTEN Health Risk Likely pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS587776673 PTEN Health Risk Pathogenic Proteus-like syndrome, PTEN hamartoma tumor syndrome
RS587776676 HPGD Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS587776677 SMARCB1 Health Risk Pathogenic Malignant rhabdoid tumor, somatic
RS587776678 SMARCB1 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 1, Rhabdoid tumor predisposition syndrome 1
RS587776679 SMARCB1 Health Risk Pathogenic SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis
RS587776680 IL12RB1 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS587776681 PROP1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS587776682 PROP1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS587776683 PROP1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS587776684 ALX1 Health Risk Pathogenic Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
RS587776685 FGF14 Health Risk Pathogenic Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A
RS587776686 IGFALS Health Risk Pathogenic Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS587776687 PPARG Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS587776688 KARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate B, Charcot-Marie-Tooth disease recessive intermediate B
RS587776689 PTCH1 Health Risk Pathogenic Basal cell carcinoma, somatic
RS587776691 PMP22 Health Risk Conflicting classifications of pathogenicity Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease
RS587776692 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS587776693 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS587776694 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS587776695 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS587776696 DMP1 Health Risk Pathogenic Hypophosphatemic rickets, autosomal recessive
RS587776697 DMP1 Health Risk Pathogenic/Likely pathogenic Hypophosphatemic rickets, autosomal recessive
RS587776698 DMP1 Health Risk Pathogenic Hypophosphatemic rickets, autosomal recessive
RS587776699 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS587776700 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS587776701 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Endometrial carcinoma
RS587776705 MSH6 Health Risk Pathogenic Mismatch repair cancer syndrome 3, Mismatch repair cancer syndrome 3
RS587776706 MSH6 Health Risk Pathogenic Mismatch repair cancer syndrome 1, Hereditary cancer-predisposing syndrome
RS587776707 NKX2-1 Health Risk Pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS587776708 NKX2-1 Health Risk Pathogenic Benign hereditary chorea, Brain-lung-thyroid syndrome
RS587776709 NKX2-1 Health Risk Pathogenic/Likely pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS587776710 ETV6 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS587776711 LHX3 Health Risk Pathogenic Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS587776712 LHX3 Health Risk Pathogenic Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS587776713 STAT1 Health Risk Likely pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS587776714 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS587776715 PMS2 Health Risk Pathogenic Mismatch repair cancer syndrome 4, Lynch syndrome
RS587776716 CDKN2A Health Risk Pathogenic; risk factor Melanoma, cutaneous malignant
RS587776717 LRP2 Health Risk Pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS587776718 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS587776719 SERPINA7 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS587776720 SERPINA7 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS587776721 SERPINA7 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS587776722 SERPINA7 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS587776723 PIGA Health Risk Pathogenic Paroxysmal nocturnal hemoglobinuria, Paroxysmal nocturnal hemoglobinuria
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