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
RS151173460 RTL9 Health Risk Conflicting classifications of pathogenicity —
RS151174152 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS151176143 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS151176879 GATA6 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 5, Monogenic diabetes
RS151177114 BCOR Health Risk Pathogenic —
RS151177516 USH2A Health Risk Conflicting classifications of pathogenicity —
RS151178348 JUP Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy, Arrhythmogenic right ventricular dysplasia 12
RS151179377 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS151179593 DGAT2 Health Risk Conflicting classifications of pathogenicity —
RS151180675 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS151180981 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS151181050 DIP2B Health Risk Conflicting classifications of pathogenicity DIP2B-related disorder, DIP2B-related disorder
RS151181785 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group L
RS151184011 DRC1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 21
RS151184272 ACOX2 Health Risk Conflicting classifications of pathogenicity Congenital bile acid synthesis defect 6, ACOX2-related disorder
RS151185112 BRD10 Health Risk Conflicting classifications of pathogenicity Hepatocellular carcinoma, Cervical cancer
RS151185188 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS151186473 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS151187151 C2CD3 Health Risk Conflicting classifications of pathogenicity Rudimentary fibula, Ankle flexion contracture
RS151187317 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS151187637 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS151187899 GSR Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency
RS151189392 SIX1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3
RS151190195 LEPR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LEPR-related disorder
RS151190720 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS151193009 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS151193056 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS151193347 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS151194801 GSE1 Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Acute myeloid leukemia
RS151195196 EDAR Health Risk Conflicting classifications of pathogenicity Non-syndromic oligodontia, Ectodermal dysplasia 10A
RS151195816 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, History of neurodevelopmental disorder
RS151195921 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS151196169 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS151197809 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS151198216 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS151198392 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS151198477 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS151198844 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS151198873 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS151198926 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, CDH3-related disorder
RS151199924 PAX3 Health Risk Conflicting classifications of pathogenicity Craniofacial-deafness-hand syndrome, Waardenburg syndrome
RS151201155 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS151202877 F8 Health Risk Pathogenic Abnormal bleeding, Hereditary factor VIII deficiency disease
RS151204004 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS151204118 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia 49
RS151204566 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome with renal defect
RS151205002 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS151205016 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Familial amyloid nephropathy with urticaria AND deafness
RS151205080 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS151206295 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS151206967 VIPAS39 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Arthrogryposis
RS151207265 MAP2K1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS151207349 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Polycystic liver disease 1
RS151207889 MAMLD1 Health Risk Conflicting classifications of pathogenicity —
RS151208856 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS151209097 LAMA5 Health Risk Conflicting classifications of pathogenicity —
RS151209912 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS151211018 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS151211377 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS151211588 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS151211613 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS151212200 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS151212477 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, PKP2-related disorder
RS151212590 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome 7, Nephronophthisis 8
RS151213335 LAMC3 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, LAMC3-related disorder
RS151213445 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS151215329 TNFSF11 Health Risk Conflicting classifications of pathogenicity —
RS151216886 IL12RB2 Health Risk Conflicting classifications of pathogenicity —
RS151216904 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum
RS151216961 PTCH1 Health Risk Likely pathogenic Basal cell carcinoma, susceptibility to
RS151218210 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS151218256 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CDH2-related disorder
RS151218760 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS151218932 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS151220618 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS151221957 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS151222023 GLI3 Health Risk Pathogenic Polysyndactyly 4, Polysyndactyly 4
RS151223901 TBX4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151224348 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS151225064 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 2, Martsolf syndrome
RS151225545 GOT2 Health Risk Conflicting classifications of pathogenicity —
RS151226475 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 5
RS151227241 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, BCKDHA-related disorder
RS151227688 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS151227799 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS151227843 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS151227955 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS151228045 NFKBIA Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases
RS151228115 COL18A1 Health Risk Conflicting classifications of pathogenicity Lung cancer, Lung cancer
RS151228192 CCDC88C Health Risk Conflicting classifications of pathogenicity CCDC88C-related disorder, CCDC88C-related disorder
RS151228388 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Orthostatic hypotension 1
RS151229784 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151230279 DACH2 Health Risk Conflicting classifications of pathogenicity —
RS151230930 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia, Achromatopsia
RS151230950 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS151231558 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS151232626 SPTB Health Risk Conflicting classifications of pathogenicity —
RS151234121 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS151234321 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS151235136 ERCC2 Health Risk Pathogenic/Likely pathogenic ERCC2-related disorder, Cerebrooculofacioskeletal syndrome 2
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