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
RS754525424 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS754526467 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS754527029 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS754527047 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS754527323 LIFR Health Risk Pathogenic/Likely pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS754527651 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS754528571 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS754529157 JPH2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy 17
RS754529382 NOTCH1 Health Risk Conflicting classifications of pathogenicity; other Adams-Oliver syndrome 5, Aortic valve disease 1
RS754529564 C6 Health Risk Pathogenic —
RS754529975 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS754530491 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS754530774 HDAC4 Health Risk Conflicting classifications of pathogenicity —
RS754532049 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS754532508 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS754532627 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS754533279 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, CYP7B1-related disorder
RS754533434 EXT2 Health Risk Pathogenic Exostoses, multiple
RS754533481 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS754533515 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS754533796 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS754536246 ZNF526 Health Risk Pathogenic Dentici-Novelli neurodevelopmental syndrome, Dentici-Novelli neurodevelopmental syndrome
RS754536393 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
RS754536598 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754536745 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS754537066 TIMM22 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 43, Combined oxidative phosphorylation deficiency 43
RS754537871 MED12 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Familial thoracic aortic aneurysm and aortic dissection
RS754538534 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS754540615 HECTD4 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS754541465 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS754543131 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS754544190 POC1B Health Risk Pathogenic —
RS754545360 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS754546219 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS754546603 SDHAF1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS754546927 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS754547088 KIZ Health Risk Likely pathogenic Adrenocortical carcinoma, hereditary
RS754547680 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS754547754 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS754548037 CHM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754548303 ZNF341 Health Risk Conflicting classifications of pathogenicity —
RS754548795 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Inborn genetic diseases
RS754549864 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS754550509 RSRC1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 70
RS754552080 TWIST1 Health Risk Conflicting classifications of pathogenicity Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS754552333 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS754553205 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS754553508 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754554026 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS754554486 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS754555043 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS754556513 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS754557712 LURAP1L Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS754557819 PDE6B Health Risk Pathogenic —
RS754558144 KMT2B Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Autism spectrum disorder
RS754558574 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS754559038 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS754559635 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS754559711 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS754561683 ERCC6L2 Health Risk Conflicting classifications of pathogenicity Pancytopenia-developmental delay syndrome, Pancytopenia-developmental delay syndrome
RS754562056 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS754562075 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS754563147 SLC25A20 Health Risk Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS754564043 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 59
RS754565020 CEP152 Health Risk Pathogenic Seckel syndrome 5, Microcephaly 9
RS754565538 ALG12 Health Risk Pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS754565622 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS754566092 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS754567507 NUP107 Health Risk Pathogenic —
RS754567575 FLG Health Risk Pathogenic —
RS754568652 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754570613 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy
RS754570811 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS754571819 SLC1A3 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 6, Episodic ataxia type 6
RS754572007 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS7545723 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS754572422 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754572911 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS754573124 ABHD5 Health Risk Pathogenic/Likely pathogenic Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS754573279 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
RS754573787 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS754575228 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS754575460 CRB1 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy, Retinitis pigmentosa 12
RS754576009 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS754576458 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS754576717 OPA1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS754577516 IARS2 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Leigh syndrome
RS754578389 GLE1 Health Risk Pathogenic —
RS754578411 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Lung cancer
RS754578634 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS754579374 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS754581272 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS754581545 GUCY2D Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS754582308 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS754583155 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS754584273 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS754584363 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS754584667 POU1F1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS754585468 COL9A3 Health Risk Pathogenic —
RS754585816 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
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