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
RS1313711010 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Cutis laxa
RS1313713863 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1313736012 HSD17B3 Health Risk Conflicting classifications of pathogenicity Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS1313738991 DNMT3A Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1313744161 LRPPRC Health Risk Pathogenic —
RS1313748646 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1313802305 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1313805843 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
RS1313808810 GHRHR Health Risk Likely pathogenic Isolated growth hormone deficiency, type 4
RS1313810606 FHL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy
RS1313818230 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1313820360 GNB1 Health Risk Pathogenic Intellectual disability, autosomal dominant 42
RS1313824270 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1313825506 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1313838988 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1313841674 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1313851585 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS1313883569 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS1313891160 LRPPRC Health Risk Pathogenic —
RS1313891279 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1313895172 FDXR Health Risk Pathogenic Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome
RS1313931851 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1313950203 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1313965409 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS1313973421 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1313984683 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1313989099 PTEN Health Risk Likely pathogenic —
RS1313998695 PFKM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VII
RS1314007418 TET3 Health Risk Likely pathogenic TET3-related disorder, TET3-related disorder
RS1314034889 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1314042787 GPAA1 Health Risk Likely pathogenic —
RS1314046622 B3GALT6 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylodysplastic type
RS1314048356 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS1314067686 CTNND1 Health Risk Likely pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
RS1314085200 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1314096195 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1314104212 ADGRV1 Health Risk Likely pathogenic ADGRV1-related disorder, ADGRV1-related disorder
RS1314114333 CEP250 Health Risk Pathogenic —
RS1314125524 SUOX Health Risk Pathogenic/Likely pathogenic SUOX-related disorder, Sulfite oxidase deficiency
RS1314129285 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Cardiovascular phenotype
RS1314133983 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS1314158150 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS1314198845 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1314218838 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1314223921 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1314226094 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1314269374 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1314273962 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Inborn genetic diseases
RS1314283337 RYR3 Health Risk Conflicting classifications of pathogenicity Flexion contracture, Congenital myopathy 20
RS1314283727 SLC35D1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Schneckenbecken dysplasia
RS1314284778 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1314290585 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS1314297056 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1314314373 BCL11B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1314321999 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS1314323456 ERCC4 Health Risk Likely pathogenic Cockayne syndrome, Xeroderma pigmentosum
RS1314336566 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS1314350298 LARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1314351369 SLC25A1 Health Risk Pathogenic —
RS1314362714 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1314368308 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Familial infantile myoclonic epilepsy
RS1314371806 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1314376649 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Pendred syndrome
RS1314404716 FITM2 Health Risk Pathogenic —
RS1314420869 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS1314464356 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1314473930 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1314476567 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS1314484669 FLG Health Risk Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS1314486961 ABCC2 Health Risk Pathogenic —
RS1314490125 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1314509668 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1314510894 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1314514015 ANO10 Health Risk Pathogenic —
RS1314517659 RAD51C Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1314520034 GALNS Health Risk Likely pathogenic —
RS1314521430 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS1314532521 ABCA2 Health Risk Pathogenic —
RS1314539077 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1314540118 VCL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1314541806 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1314571330 TTN Health Risk Conflicting classifications of pathogenicity —
RS1314577386 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS1314595703 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
RS1314598960 CNGA1 Health Risk Likely pathogenic —
RS1314609319 MTOR Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Inborn genetic diseases
RS1314619609 TRMT10A Health Risk Pathogenic/Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS1314623572 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1314637261 ABCC2 Health Risk Likely pathogenic —
RS1314645884 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1314660137 PCNT Health Risk Pathogenic —
RS1314660313 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1314677608 TRIP11 Health Risk Likely pathogenic Achondrogenesis, type IA
RS1314705351 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1314750809 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS1314755734 PCNT Health Risk Pathogenic/Likely pathogenic —
RS1314759488 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1314762950 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS13147758 HHIP Health Risk association Chronic obstructive pulmonary disease, biomass related
RS1314787391 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
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