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
RS113393517 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS113401862 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS113402912 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS113403872 PKLR Health Risk Pathogenic Pyruvate kinase deficiency of red cells, PKLR-related disorder
RS113410788 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS113413307 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS113413897 OSMR Health Risk Conflicting classifications of pathogenicity OSMR-related disorder, Inborn genetic diseases
RS113418909 SERPINA6 Health Risk Conflicting classifications of pathogenicity Corticosteroid-binding globulin deficiency, SERPINA6-related disorder
RS113418988 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 16, Potassium-aggravated myotonia
RS113419388 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS113419658 POPDC3 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS113422196 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS113422242 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113422365 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS113425529 ARHGEF15 Health Risk Conflicting classifications of pathogenicity ARHGEF15-related disorder, Early-infantile DEE
RS113425928 CERKL Health Risk Likely pathogenic —
RS113432057 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS113434340 SMCHD1 Health Risk Conflicting classifications of pathogenicity Scapulohumeral muscular dystrophy, Facioscapulohumeral muscular dystrophy 2
RS113436208 LMNA Health Risk Pathogenic Hutchinson-Gilford syndrome, Restrictive dermopathy 2
RS113442895 ADCY5 Health Risk Conflicting classifications of pathogenicity ADCY5-related disorder, ADCY5-related disorder
RS113443891 LAMC3 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Inborn genetic diseases
RS113445400 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS113446173 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram-like syndrome
RS113448164 HYDIN Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 5, HYDIN-related disorder
RS113451409 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiac arrest, Cardiovascular phenotype
RS113452150 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS113453570 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113460156 RYR1 Health Risk Conflicting classifications of pathogenicity Hypotonia, Malignant hyperthermia
RS113462659 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, SCN4A-related disorder
RS113464656 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS113467202 ESPN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS113467582 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS113471285 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS113472814 HPD Health Risk Likely pathogenic Hawkinsinuria, Tyrosinemia type III
RS113473971 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS113474008 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Diabetic retinopathy, Diabetic retinopathy
RS113475650 AKAP8 Health Risk Conflicting classifications of pathogenicity —
RS113482537 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS113483303 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS113483524 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS113485015 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS113485686 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS113488022 BRAF Health Risk Pathogenic Carcinoma of colon, Papillary thyroid carcinoma
RS113488459 DSTYK Health Risk Conflicting classifications of pathogenicity DSTYK-related disorder, DSTYK-related disorder
RS113490514 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS113491328 PYCR1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, PYCR1-related disorder
RS113498433 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS113498662 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS1135057 COL9A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS113506485 ITGB6 Health Risk Conflicting classifications of pathogenicity ITGB6-related disorder, Inborn genetic diseases
RS1135071 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS113511708 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS11351249 NR2E3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 37
RS113513162 ACTC1 Health Risk Likely pathogenic —
RS113513946 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS113513950 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS113514722 REEP6 Health Risk Pathogenic —
RS113516368 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS113516976 ZBTB24 Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Inborn genetic diseases
RS113517055 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS113525292 COL6A2 Health Risk Pathogenic —
RS113525641 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS113527563 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS113532166 ASAH1 Health Risk Likely pathogenic —
RS113534264 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS1135348 COL1A1 Health Risk Pathogenic —
RS113536228 RTTN Health Risk Conflicting classifications of pathogenicity RTTN-related disorder, RTTN-related disorder
RS113538343 TFPI2 Health Risk Conflicting classifications of pathogenicity —
RS1135401728 NGLY1 Health Risk Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1135401729 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1135401730 NGLY1 Health Risk Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1135401731 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1135401732 HNRNPU Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1135401733 HNRNPU Health Risk Pathogenic Epileptic encephalopathy, Intellectual disability
RS1135401734 HNRNPU Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1135401735 DSP Health Risk Likely pathogenic Progressive familial heart block, Progressive familial heart block
RS1135401736 SCN1B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 52
RS1135401743 HAAO Health Risk Pathogenic Congenital NAD deficiency disorder, Vertebral
RS1135401744 KYNU Health Risk Pathogenic Congenital NAD deficiency disorder, Vertebral
RS1135401746 GNB1 Health Risk Pathogenic Intellectual disability, autosomal dominant 42
RS1135401747 GARS1 Health Risk Pathogenic GARS-associated growth retardation and developmental delay, GARS-associated growth retardation and developmental delay
RS1135401749 TRAPPC12 Health Risk Pathogenic Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Progressive childhood encephalopathy
RS1135401750 INPPL1 Health Risk Pathogenic Opsismodysplasia, Opsismodysplasia
RS1135401752 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1135401753 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1135401754 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1135401755 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1135401756 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1135401757 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1135401758 TUBB2B Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS1135401759 PLP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS1135401760 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 41
RS1135401761 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1135401762 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1135401763 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS1135401764 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1135401765 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, See cases
RS1135401766 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1135401767 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1135401768 SIN3A Health Risk Pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
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