SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS782708058 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782708481 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Hemochromatosis type 2A
RS782708557 ATRX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
RS782709009 ACER3 Health Risk Pathogenic Alkaline ceramidase 3 deficiency, Alkaline ceramidase 3 deficiency
RS782709024 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS782710557 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782711428 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS782711582 OPN1LW Health Risk Pathogenic —
RS782712220 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Infantile-onset X-linked spinal muscular atrophy
RS782712529 FGF3 Health Risk Likely pathogenic Deafness with labyrinthine aplasia, microtia
RS782712766 L1CAM Health Risk Conflicting classifications of pathogenicity X-linked complicated corpus callosum dysgenesis, Inborn genetic diseases
RS782713149 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS782713908 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782714107 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS782715020 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS782715847 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782716325 TSPEAR Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
RS782716712 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS782717194 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782717683 CAPN5 Health Risk Conflicting classifications of pathogenicity —
RS782718606 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782720064 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782720354 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782720434 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS782720805 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS782720902 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS782720992 ADAMTS10 Health Risk Likely pathogenic Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS782722577 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS782722844 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS782723092 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases
RS782723581 ATP6V1B1 Health Risk Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS782724202 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS782724892 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782725093 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782725826 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782726270 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Inborn genetic diseases
RS782726390 SURF1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4K, Charcot-Marie-Tooth disease type 4K
RS782726588 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782727078 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS782727601 HCFC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Methylmalonic acidemia with homocystinuria
RS782727618 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782727635 KMT2A Health Risk Likely pathogenic —
RS782728045 NOTCH2 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS782728053 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS782729361 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS782729580 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS782729940 PACS2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 66
RS782730988 WAS Health Risk Conflicting classifications of pathogenicity X-linked severe congenital neutropenia, Thrombocytopenia 1
RS782731044 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS782731165 SLC9A6 Health Risk Conflicting classifications of pathogenicity Christianson syndrome, Nonpapillary renal cell carcinoma
RS782731479 TAFAZZIN Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria type 2
RS782731667 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS782731811 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS782732824 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782733038 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782733226 TONSL Health Risk Likely pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS782733459 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782733541 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS782733685 F8 Health Risk Pathogenic/Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS782734602 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782735906 PORCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782736700 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, MECP2-related disorder
RS782736894 BPTF Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Secondary microcephaly
RS782737003 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5C
RS782737005 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782737074 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782737391 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, Inborn genetic diseases
RS782737751 CACNA1F Health Risk Likely pathogenic —
RS782738754 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS782739484 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782739586 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782739596 DGAT1 Health Risk Conflicting classifications of pathogenicity Congenital diarrhea 7 with exudative enteropathy, Diarrhea
RS782739997 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS782740969 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782740998 CACNA1F Health Risk Pathogenic Congenital stationary night blindness, X-linked cone-rod dystrophy 3
RS782741359 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782741672 FSCN2 Health Risk Conflicting classifications of pathogenicity —
RS782743337 ADAMTS10 Health Risk Pathogenic —
RS782743763 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782744167 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS782744244 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782744969 CLCN5 Health Risk Conflicting classifications of pathogenicity Dent disease type 1, Hypophosphatemic rickets
RS782745619 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS782746289 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS782746363 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782746421 CLCN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS78274653 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS782747153 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS782748026 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782748173 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS782748833 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782749835 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2
RS782750497 OPLAH Health Risk Pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS782751421 HYAL1 Health Risk Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS782751503 HUWE1 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS782751698 C1S Health Risk Pathogenic —
RS782751731 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Heterotopia
RS782751824 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782752037 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS782752201 LAGE3 Health Risk Conflicting classifications of pathogenicity —
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