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
RS55856189 TBXAS1 Health Risk Conflicting classifications of pathogenicity Ghosal hematodiaphyseal dysplasia, Ovarian serous cystadenocarcinoma
RS558563793 ABCA12 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 4A, Inborn genetic diseases
RS558564568 CDH23 Health Risk Pathogenic —
RS558567843 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS558571598 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS558572111 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS55857909 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS55858252 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Alternating hemiplegia of childhood 1
RS558586992 SLC26A1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-I-H/S
RS558590558 CACNB4 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 5, Episodic ataxia type 5
RS55859129 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS558592800 SLCO1B3 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, SLCO1B3-related disorder
RS558595162 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS55859590 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS558608884 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS55861249 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS558614618 MYSM1 Health Risk Likely pathogenic —
RS558619741 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS55862001 DCTN1 Health Risk Conflicting classifications of pathogenicity Perry syndrome, Neuronopathy
RS558625464 MYH11;NDE1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 4, Lissencephaly 4
RS558628181 MAK Health Risk Pathogenic/Likely pathogenic MAK-related disorder, Retinitis pigmentosa 62
RS558631075 MARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS558635043 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS55863639 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS558636596 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS558637226 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 3
RS558637427 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS558639346 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS558648661 PKD1 Health Risk Pathogenic —
RS558650814 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Liang-Wang syndrome
RS55866005 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS558661774 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS558665283 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS558667045 RNU4ATAC Health Risk Pathogenic Lowry-Wood syndrome, Lowry-Wood syndrome
RS558670891 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS558671219 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS558674954 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS55868108 CHRND Health Risk Pathogenic/Likely pathogenic Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3A
RS558683670 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS55868409 CCDC170 Health Risk Conflicting classifications of pathogenicity —
RS558699420 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS558700334 OBSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS55870409 HBA2 Health Risk Likely pathogenic —
RS558707786 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS558712702 LHX3 Health Risk Pathogenic —
RS558718557 RET Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 1, Pheochromocytoma
RS558726483 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS558727238 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS558730527 ADAMTS17 Health Risk Likely pathogenic Weill-Marchesani 4 syndrome, recessive
RS558732083 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS558737770 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS558749473 CFI Health Risk Conflicting classifications of pathogenicity CFI-related disorder, CFI-related disorder
RS558749972 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS55875201 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS55875643 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS55875654 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS558761793 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, ALDH4A1-related disorder
RS558765093 MBD4 Health Risk Pathogenic/Likely pathogenic Tumor predisposition syndrome 2, Melanoma
RS55876679 SPEG Health Risk Conflicting classifications of pathogenicity SPEG-related disorder, SPEG-related disorder
RS558767137 HR Health Risk Conflicting classifications of pathogenicity Alopecia universalis congenita, Atrichia with papular lesions
RS558768145 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Smith-Magenis syndrome
RS558770025 PLXNA2 Health Risk Conflicting classifications of pathogenicity PLXNA2-related disorder, PLXNA2-related disorder
RS558770240 JPH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS558775133 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS558778286 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS55877890 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS558785983 ELFN1 Health Risk Conflicting classifications of pathogenicity —
RS558787024 PRPF6 Health Risk Conflicting classifications of pathogenicity —
RS558799480 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS558802130 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS558804189 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS558808033 NEUROD2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 72
RS55880859 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS558811781 HES7 Health Risk Conflicting classifications of pathogenicity HES7-related disorder, HES7-related disorder
RS558813240 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS558814304 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS55881945 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS55882234 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS55882518 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS558825586 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS558826439 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS558830502 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS558832183 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS558840029 CUBN Health Risk Pathogenic Proteinuria, chronic benign
RS55884219 CHD8 Health Risk Pathogenic Intellectual disability, Intellectual developmental disorder with autism and macrocephaly
RS558860396 KCNE2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 6, Atrial fibrillation
RS558861943 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS55886356 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Cardiovascular phenotype
RS558865554 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS558873032 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS558882005 HSPB1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS558887330 SCN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS558890925 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS558895396 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS55889738 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS558898648 GSR Health Risk Conflicting classifications of pathogenicity —
RS558904601 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS558906147 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS558911370 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS55891436 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
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