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
RS1057520585 ARID1A Health Risk Pathogenic —
RS1057520588 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1057520589 CREBBP Health Risk Pathogenic —
RS1057520590 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1057520592 CHD2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1057520594 SLC6A8 Health Risk Likely pathogenic —
RS1057520597 PKP2 Health Risk Pathogenic —
RS1057520598 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS1057520599 COL7A1 Health Risk Pathogenic —
RS1057520600 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1057520601 FBN1 Health Risk Pathogenic —
RS1057520605 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1057520606 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1057520607 TP53 Health Risk Conflicting classifications of pathogenicity Ovarian neoplasm, Hereditary cancer-predisposing syndrome
RS1057520608 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1057520610 AMER1 Health Risk Pathogenic —
RS1057520611 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057520612 BTK Health Risk Pathogenic —
RS1057520613 OCRL Health Risk Pathogenic —
RS1057520617 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1057520619 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1057520620 NSD1 Health Risk Pathogenic —
RS1057520622 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome
RS1057520623 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Cardiac arrhythmia
RS1057520625 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1057520627 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057520629 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1057520630 PNKP Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 12
RS1057520631 STXBP1 Health Risk Pathogenic Infantile epilepsy syndrome, Infantile epilepsy syndrome
RS1057520634 ATP2C1 Health Risk Pathogenic —
RS1057520636 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1057520640 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057520642 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1057520643 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1057520644 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, Combined immunodeficiency
RS1057520645 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1057520646 CASR Health Risk Pathogenic —
RS1057520647 GK Health Risk Pathogenic —
RS1057520649 FMO3 Health Risk Pathogenic/Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS1057520650 PKP2 Health Risk Pathogenic —
RS1057520652 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Congenital heart anomalies
RS1057520653 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1057520654 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1057520655 WNT10A Health Risk Conflicting classifications of pathogenicity Odonto-onycho-dermal dysplasia, Tooth agenesis
RS1057520656 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1057520659 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1057520660 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1057520661 CDH23 Health Risk Pathogenic —
RS1057520662 CDH23 Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1057520663 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1057520664 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1057520665 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS1057520666 FLVCR1 Health Risk Pathogenic —
RS1057520667 KMT2D Health Risk Pathogenic —
RS1057520668 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1057520669 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057520670 NKX2-5 Health Risk Likely pathogenic —
RS1057520671 NSD1 Health Risk Pathogenic —
RS1057520672 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057520673 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS1057520674 EFTUD2 Health Risk Pathogenic —
RS1057520678 PCDH15 Health Risk Pathogenic —
RS1057520679 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1057520680 ADAMTS13 Health Risk Pathogenic/Likely pathogenic —
RS1057520682 BTK Health Risk Pathogenic —
RS1057520683 TP63 Health Risk Pathogenic/Likely pathogenic TP63-related disorder, TP63-related disorder
RS1057520686 TK2 Health Risk Conflicting classifications of pathogenicity —
RS1057520687 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS1057520688 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1057520689 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1057520690 PIK3R1 Health Risk Pathogenic —
RS1057520691 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1057520693 COL7A1 Health Risk Pathogenic —
RS1057520694 ACTG2 Health Risk Conflicting classifications of pathogenicity Visceral myopathy 1, ACTG2-related disorder
RS1057520695 MCCC1 Health Risk Conflicting classifications of pathogenicity —
RS1057520696 KMT2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1057520697 DNAH5 Health Risk Pathogenic Lung cancer, Lung cancer
RS1057520700 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Thrombocytopenia 1
RS1057520704 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1057520708 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1057520709 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1057520710 NSD1 Health Risk Pathogenic —
RS1057520711 RYR1 Health Risk Pathogenic —
RS1057520712 CHD7 Health Risk Pathogenic —
RS1057520714 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1057520715 GNAS Health Risk Likely pathogenic —
RS1057520717 COL6A2 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1B
RS1057520719 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, X-linked
RS1057520720 EFTUD2 Health Risk Pathogenic —
RS1057520722 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Malignant tumor of urinary bladder
RS1057520724 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1057520726 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS1057520727 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS1057520728 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1057520730 CTNNB1 Health Risk Pathogenic —
RS1057520731 PDE4D Health Risk Pathogenic —
RS1057520732 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1057520733 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1057520734 CHD7 Health Risk Pathogenic —
RS1057520735 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
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