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
RS371496970 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371498362 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS371498505 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS371498622 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS371498697 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371500586 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS371500703 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS371500990 ZFP57 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371500993 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS371501460 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS371501734 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS371502563 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS371503251 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS371504152 HAX1 Health Risk Likely pathogenic Kostmann syndrome, Familial cancer of breast
RS371505143 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS371505908 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 3
RS371508247 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS371508357 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS371508414 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS371508721 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS371508788 SALL1 Health Risk Pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS371509438 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS371510438 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS371510537 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS371511825 SNRNP200 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371511963 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS371512479 ACVR1 Health Risk Conflicting classifications of pathogenicity Progressive myositis ossificans, Progressive myositis ossificans
RS371512835 CNTNAP2 Health Risk Pathogenic/Likely pathogenic Epilepsy, Autism spectrum disorder
RS371512914 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS371512923 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS371513491 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS371513573 PACS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS371513959 STRC Health Risk Pathogenic Rare genetic deafness, STRC-related disorder
RS371514555 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS371514669 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS371514699 LRP5 Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 4 with or without kidney cysts, Polycystic liver disease 4 with or without kidney cysts
RS371515262 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS371515325 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS371516347 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS371517189 DSP Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1S, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS371517199 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371517491 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS371517661 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS371518124 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS371518764 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371519199 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS371519713 HSPG2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS371520192 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS371521751 CFAP418 Health Risk Conflicting classifications of pathogenicity Bardet-biedl syndrome 21, Retinitis pigmentosa
RS371522435 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS371522442 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Spastic paraplegia
RS371522763 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS371523255 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS371524359 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS371524413 TP53 Health Risk Pathogenic/Likely pathogenic Ovarian neoplasm, Hereditary cancer-predisposing syndrome
RS371525247 CEP290 Health Risk Pathogenic Joubert syndrome 5, Nephronophthisis
RS371525263 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371525707 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS371525743 PPP2R5D Health Risk Conflicting classifications of pathogenicity —
RS371526145 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS371526758 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Inborn genetic diseases
RS371527260 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS371527316 NBAS Health Risk Conflicting classifications of pathogenicity —
RS371527587 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS371528685 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS371528938 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS371529148 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS371529633 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371529672 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371531675 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 9
RS371533014 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS371534425 ALG3 Health Risk Conflicting classifications of pathogenicity ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS371534878 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS371534902 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS371535721 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371535991 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS371536347 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS371536364 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS371537299 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS371537478 TCTN2 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS371537663 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS371537819 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS371537907 KIFBP Health Risk Conflicting classifications of pathogenicity Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS371538664 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371538715 TTBK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371538747 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS371538856 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS371539720 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS371540139 FKBP10 Health Risk Conflicting classifications of pathogenicity —
RS371540867 SLC1A2 Health Risk Conflicting classifications of pathogenicity —
RS371541138 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371541705 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS371541763 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Inborn genetic diseases
RS371542005 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371542643 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS371542660 DNAAF5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS371542947 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371543013 TRIOBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TRIOBP-related disorder
RS371543182 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS371543989 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart
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