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
RS782148152 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Inborn genetic diseases
RS782149002 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, X-linked hydrocephalus syndrome
RS78215018 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS782151307 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782151425 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS782151492 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782151715 ATP6V1B1 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS782151721 F8 Health Risk Likely pathogenic —
RS782152033 ATP6V1B1 Health Risk Pathogenic Renal tubular acidosis with progressive nerve deafness, Distal renal tubular acidosis
RS782152127 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS782153322 TPI1 Health Risk Conflicting classifications of pathogenicity Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS782153790 OTUD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Multiple congenital anomalies-neurodevelopmental syndrome
RS782155363 BCAP31 Health Risk Conflicting classifications of pathogenicity Microcephaly, Inborn genetic diseases
RS782155380 PLXNB3 Health Risk Conflicting classifications of pathogenicity —
RS782155959 TSPEAR Health Risk Pathogenic —
RS782156855 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782157170 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782157246 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS782157451 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS782157715 CLCN5 Health Risk Conflicting classifications of pathogenicity X-linked recessive nephrolithiasis with renal failure, Dent disease type 1
RS782157913 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, ABCD1-related disorder
RS782158050 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782158357 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782158640 WAS Health Risk Conflicting classifications of pathogenicity X-linked severe congenital neutropenia, Thrombocytopenia 1
RS782158761 F8 Health Risk Pathogenic Abnormality of coagulation, Hereditary factor VIII deficiency disease
RS782158792 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS782159247 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS782159618 TSPEAR Health Risk Pathogenic Tooth agenesis, selective
RS782161008 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782161777 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Leigh syndrome
RS782161783 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS782161942 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS782162105 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS782162927 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS782163019 L1CAM Health Risk Conflicting classifications of pathogenicity X-linked hydrocephalus syndrome, Spastic paraplegia
RS782163200 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Usher syndrome type 1B
RS782163275 ORAI1 Health Risk Likely pathogenic Combined immunodeficiency due to ORAI1 deficiency, Combined immunodeficiency due to ORAI1 deficiency
RS782163488 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS782164084 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS782164742 HJV Health Risk Pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS782164955 RP2 Health Risk Conflicting classifications of pathogenicity —
RS782165016 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Inborn genetic diseases
RS782165604 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782165735 PGK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS782165947 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS782166364 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782166488 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS782166627 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS782166819 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome type 1
RS782166922 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS782168634 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782168868 POR Health Risk Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS782169513 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 5B
RS782170731 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS782171210 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782172072 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS782172825 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS782172902 HCFC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782174299 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782174347 CYBB Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS782174967 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS782175030 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782175064 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS782175326 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases
RS782175669 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782175860 ATP1A3 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Dystonia 12
RS782176647 SMC1A Health Risk Pathogenic/Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS782176670 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782176754 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
RS782176924 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, PHKA1-related disorder
RS782176982 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS782177733 CLCN5 Health Risk Conflicting classifications of pathogenicity Dent disease type 1, Dent disease type 1
RS782177944 CACNA1F Health Risk Conflicting classifications of pathogenicity Aland island eye disease, Aland island eye disease
RS782178037 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782178147 IKBKG Health Risk Pathogenic Ectodermal dysplasia and immunodeficiency 1, Incontinentia pigmenti syndrome
RS782178170 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS782178366 L1CAM Health Risk Pathogenic —
RS782178764 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Inborn genetic diseases
RS782178831 FLNA Health Risk Pathogenic/Likely pathogenic Cardiac valvular dysplasia, X-linked
RS782179266 PACS2 Health Risk Conflicting classifications of pathogenicity See cases, Developmental and epileptic encephalopathy
RS782179888 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS78218009 TREX1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS782180322 CEP41 Health Risk Pathogenic Joubert syndrome 15, Joubert syndrome 15
RS782180398 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782180684 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS782180774 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782181274 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS782181399 SLC25A1 Health Risk Conflicting classifications of pathogenicity —
RS782181535 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS782181643 DGAT1 Health Risk Pathogenic —
RS782182115 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782182218 DNAJC30 Health Risk Likely pathogenic DNAJC30-related disorder, DNAJC30-related disorder
RS782183376 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS782183517 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS782184234 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782184691 GJA8 Health Risk Pathogenic Cataract 1 multiple types, Inborn genetic diseases
RS782184873 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782185799 DLAT Health Risk Pathogenic Pyruvate dehydrogenase E2 deficiency, Pancreatic adenocarcinoma
RS782185897 PLEC Health Risk Pathogenic —
RS78218617 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
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