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
RS776307088 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS776308503 HPDL Health Risk Likely pathogenic —
RS776309120 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS776309355 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS776311349 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS776312173 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS776312538 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS776312600 EZH2 Health Risk Pathogenic Weaver syndrome, Weaver syndrome
RS776312649 CNGB1 Health Risk Pathogenic —
RS776312790 ATM Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Ataxia-telangiectasia syndrome
RS776313200 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS776313489 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS776314368 POMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS776314424 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS776314797 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS776315170 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS776315442 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS776316565 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, MAP2K2-related disorder
RS776317664 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS776318939 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Ventricular tachycardia
RS776320459 GJB3 Health Risk Conflicting classifications of pathogenicity Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1
RS776320810 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS776320867 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS776321170 RTTN Health Risk Likely pathogenic —
RS776321294 SKIC3 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome 1, SKIC3-related disorder
RS776322323 AIP Health Risk Conflicting classifications of pathogenicity Familial isolated pituitary adenoma, Familial isolated pituitary adenoma
RS77632238 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS776322401 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS776322512 GALNT3 Health Risk Pathogenic/Likely pathogenic Tumoral calcinosis, hyperphosphatemic
RS776323117 BRCA1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Breast-ovarian cancer
RS776324076 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS776324795 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS776325453 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS776326633 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776327443 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS776327537 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS776328472 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS776329238 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS776329282 ERCC4 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome, Fanconi anemia complementation group Q
RS776329513 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS776329920 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS776330796 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS776330843 ANLN Health Risk Conflicting classifications of pathogenicity ANLN-related disorder, ANLN-related disorder
RS776333127 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS776333956 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS776334631 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS776335807 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS776336201 DUOX2 Health Risk Pathogenic DUOX2-related disorder, DUOX2-related disorder
RS776336811 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS776336832 MYD88 Health Risk Conflicting classifications of pathogenicity Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency
RS776337557 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776338254 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776339682 COL13A1 Health Risk Pathogenic —
RS776340315 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS776341264 TTN Health Risk Pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS776341501 BRAT1 Health Risk Likely pathogenic BRAT1-related disorder, BRAT1-related disorder
RS776344596 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776344968 QARS1 Health Risk Pathogenic/Likely pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS776345555 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS776345834 STAMBP Health Risk Likely pathogenic —
RS776345851 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS776345911 LOXHD1 Health Risk Pathogenic/Likely pathogenic Hearing impairment, Autosomal recessive nonsyndromic hearing loss 77
RS776346805 SLC12A1 Health Risk Pathogenic/Likely pathogenic SLC12A1-related disorder, SLC12A1-related disorder
RS776347265 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Inborn genetic diseases
RS776347680 MOGS Health Risk Likely pathogenic —
RS776347774 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS776348160 SNX10 Health Risk Likely pathogenic Gastric cancer, Gastric cancer
RS776348228 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome
RS776348927 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS776349164 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS776349500 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS776349801 EPAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776351580 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS776351641 SLC12A3 Health Risk Pathogenic —
RS776351932 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS776353922 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS776353983 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS776354144 F7 Health Risk Conflicting classifications of pathogenicity Congenital factor VII deficiency, Congenital factor VII deficiency
RS776354402 CDH23 Health Risk Likely pathogenic —
RS776354621 OCA2 Health Risk Pathogenic —
RS776355208 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS776355907 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS776356158 SUOX Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency, Sulfocysteinuria
RS776357060 VPS33B Health Risk Likely pathogenic —
RS776357610 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS776357611 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS776360559 CEP290 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 6, Joubert syndrome 5
RS776361009 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Generalized epilepsy with febrile seizures plus
RS776361113 TTN Health Risk Conflicting classifications of pathogenicity —
RS776361173 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS776361955 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS776362840 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS776362892 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS776363168 NEXMIF Health Risk Conflicting classifications of pathogenicity NEXMIF-related disorder, Thyroid cancer
RS776363711 HADHA Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS776363896 BCS1L Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1
RS776363986 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS776366988 WHRN Health Risk Pathogenic —
RS776367625 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS776367717 FBN3 Health Risk Conflicting classifications of pathogenicity —
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