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
RS782090947 G6PD Health Risk Pathogenic/Likely pathogenic Anemia, nonspherocytic hemolytic
RS782092363 TKT Health Risk Pathogenic Transketolase deficiency, Transketolase deficiency
RS782092924 CACNA1F Health Risk Conflicting classifications of pathogenicity CACNA1F-related disorder, CACNA1F-related retinopathy
RS782093854 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782094366 HYAL1 Health Risk Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS782094877 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782095095 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS782095418 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS782096458 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, ELN-related disorder
RS782096562 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS782096761 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782097535 ADAMTS10 Health Risk Likely pathogenic Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS782097679 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS782097752 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS782098548 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS782099193 TAFAZZIN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 3-Methylglutaconic aciduria type 2
RS782099388 SHROOM4 Health Risk Conflicting classifications of pathogenicity SHROOM4-related disorder, SHROOM4-related disorder
RS782099443 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782099475 IQSEC2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 1
RS782099907 FLNA Health Risk Conflicting classifications of pathogenicity 9 conditions, Heterotopia
RS782100269 PNCK Health Risk Conflicting classifications of pathogenicity —
RS782100354 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782101275 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS782102147 ATP6V1B1 Health Risk Pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS782102345 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS782102648 FKBP6 Health Risk Pathogenic Male infertility, Spermatogenic failure 77
RS782103312 PQBP1 Health Risk Conflicting classifications of pathogenicity —
RS782103396 RP2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 2
RS782104015 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS782104882 POR Health Risk Likely pathogenic Fine-Lubinsky syndrome, Fine-Lubinsky syndrome
RS782105093 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS782107354 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782107643 PLEC Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS782108001 PACS2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 66
RS782108131 ESX1 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
RS782108464 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS782109311 ATP6AP1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 47, Immunodeficiency 47
RS782109481 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Upshaw-Schulman syndrome
RS782110153 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1
RS782111379 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782112331 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS782112732 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782113085 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS78211353 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS782113697 HACD1 Health Risk Likely pathogenic —
RS782113867 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782114199 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS782114678 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782115169 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782115211 WAS Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS782115290 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782116062 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS782117003 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS782118838 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782119109 HUWE1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked syndromic
RS782120692 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS782120820 GATA1 Health Risk Conflicting classifications of pathogenicity GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS782121971 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS782122122 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782122419 PACS2 Health Risk Conflicting classifications of pathogenicity —
RS782123116 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5C
RS782123500 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS782123880 F8 Health Risk Conflicting classifications of pathogenicity Thrombophilia, X-linked
RS782124549 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS782124562 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS782124831 ACTG1 Health Risk Likely pathogenic —
RS782125333 CAPN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782125781 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782127182 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS782129236 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS782129661 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782130589 TSPEAR Health Risk Conflicting classifications of pathogenicity —
RS782130740 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12
RS782131913 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS782132072 IQSEC2 Health Risk Pathogenic See cases, See cases
RS782132299 CYBB Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS782132907 F8 Health Risk Conflicting classifications of pathogenicity Thrombophilia, X-linked
RS782134110 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782135453 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782135892 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS782136399 BGN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS782137558 ABCD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Adrenoleukodystrophy
RS782138140 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS782138777 ATP6V1B1 Health Risk Pathogenic Inborn genetic diseases, Renal tubular acidosis with progressive nerve deafness
RS782139620 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS782140099 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS782140153 GPAA1 Health Risk Likely pathogenic —
RS782140888 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782140994 ATP1A3 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12
RS782141541 KDM5C Health Risk Pathogenic —
RS782142395 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782142964 RBP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782143050 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782143078 NSDHL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Child syndrome
RS782143488 HSD17B10 Health Risk Conflicting classifications of pathogenicity HSD10 mitochondrial disease, HSD10 mitochondrial disease
RS782143967 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS782144786 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782145177 TSPEAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Tooth agenesis
RS782146244 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS782147650 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
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