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
RS374156023 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS374156343 PDE6B Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, PDE6B-related disorder
RS374156784 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS374156844 COL11A2 Health Risk Pathogenic/Likely pathogenic —
RS374156904 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS374157786 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS374158137 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS374158562 COL4A3 Health Risk Likely pathogenic —
RS374160194 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS374160587 IGSF10 Health Risk Conflicting classifications of pathogenicity —
RS374161061 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS374161234 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinal dystrophy
RS374161818 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS374162358 CD151 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 7, with nephropathy and deafness
RS3741625 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS374162819 DLL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374163823 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS374163882 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Cardiomyopathy
RS374163992 RASGRP2 Health Risk Conflicting classifications of pathogenicity —
RS374164087 COL4A4 Health Risk Conflicting classifications of pathogenicity COL4A4-related disorder, COL4A4-related disorder
RS374165491 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS374166613 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS374166639 ROBO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ROBO2-related disorder
RS374166743 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS374166820 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS374167223 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS374167385 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS374167556 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS374167619 DCTN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 1
RS374168125 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS374168429 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS374168580 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS374168890 TBCK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374169186 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS374170024 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological
RS374171506 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS374171638 NDUFA12 Health Risk Likely pathogenic —
RS374172791 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS374172871 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS374172904 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS374173311 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, AARS2-related disorder
RS374173514 DNM1L Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS374174345 MAFB Health Risk Conflicting classifications of pathogenicity Multicentric carpo-tarsal osteolysis with or without nephropathy, Duane retraction syndrome 3 with or without deafness
RS374174400 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS374174863 SPATA31D1 Health Risk Conflicting classifications of pathogenicity —
RS374176091 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS374176132 LMAN1 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Hereditary factor VIII deficiency disease
RS374176559 GEN1 Health Risk Conflicting classifications of pathogenicity —
RS374177752 CAMTA1 Health Risk Conflicting classifications of pathogenicity —
RS374177807 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS374177870 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS374177941 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS374178459 FREM2 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2
RS374178504 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS374178650 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS374179368 PIGT Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 3, Melanoma
RS374180760 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS374180791 ACP5 Health Risk Conflicting classifications of pathogenicity Spondyloenchondrodysplasia with immune dysregulation, Inborn genetic diseases
RS374181175 SLC12A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374182158 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS374182921 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder
RS374183234 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS374183624 MYO15A Health Risk Pathogenic/Likely pathogenic Ear malformation, MYO15A-related disorder
RS374184198 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374186605 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS374186868 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS374187104 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS374187267 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS374187836 HESX1 Health Risk Conflicting classifications of pathogenicity Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
RS374188857 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS374189772 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Duane-radial ray syndrome
RS374190021 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS374190119 DLC1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Colorectal cancer
RS374190410 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS374191107 FUS Health Risk Conflicting classifications of pathogenicity FUS-related disorder, Amyotrophic lateral sclerosis type 6
RS374191973 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS374191985 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS374191991 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Ciliary dyskinesia
RS374192364 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS374192541 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS374193411 MYRF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374193842 ECHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374195067 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS374195251 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, Inborn genetic diseases
RS374195664 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS374196141 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS374196960 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS374197835 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intellectual disability
RS374198258 OTOGL Health Risk Pathogenic —
RS374198932 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374200609 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Inborn genetic diseases
RS374200686 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS374200895 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS374201703 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374202040 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS374202355 DDHD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS374202621 VPS33B Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS374202650 KCNH5 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS374203151 PIEZO1 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 6, Lymphatic malformation 6
RS374203339 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
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