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
RS778599933 GRN Health Risk Pathogenic/Likely pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS778600333 MPDZ Health Risk Likely pathogenic —
RS778600773 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS778601992 CYP11B1 Health Risk Pathogenic —
RS778602038 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS778602278 KMT2C Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS778603023 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS778603129 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Congenital myopathy with fiber type disproportion
RS778603956 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS778604642 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS778605187 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS778606251 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778606847 NMNAT1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 9, Retinal dystrophy
RS778607600 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS778608263 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS778608834 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, Inborn genetic diseases
RS778610412 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS778610421 SLC16A1 Health Risk Pathogenic —
RS778611489 SLC6A19 Health Risk Pathogenic Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS778611530 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS778611558 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS778611627 CEL Health Risk Likely pathogenic Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
RS778612433 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS778612815 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS778612831 COL18A1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS778612938 PRKN Health Risk Conflicting classifications of pathogenicity —
RS778613425 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS778613495 OCA2 Health Risk Pathogenic —
RS778613849 WDR35 Health Risk Likely pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS778614771 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS778615098 ACE Health Risk Pathogenic/Likely pathogenic Renal tubular dysgenesis of genetic origin, Microvascular complications of diabetes
RS778615486 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS778618250 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS778618612 PROM1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS778618662 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS778618710 UQCRC2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5
RS778619122 LAMC3 Health Risk Likely pathogenic —
RS778620127 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS778620898 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS778621511 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Inborn genetic diseases
RS778622948 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS778623853 SIN3A Health Risk Pathogenic/Likely pathogenic —
RS778624338 CTNNB1 Health Risk Pathogenic Inborn genetic diseases, Hepatocellular carcinoma
RS778624615 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS778624945 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS778625408 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS778626016 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS778627080 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS778627715 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS778628163 DDHD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 54, Hereditary spastic paraplegia
RS778628310 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS778629667 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS778630379 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS778631726 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Van Maldergem syndrome 2
RS778632065 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS778634045 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS778634417 TTN Health Risk Conflicting classifications of pathogenicity —
RS778635368 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS778636665 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS778637721 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS778637849 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS778638734 MRTFA Health Risk Conflicting classifications of pathogenicity —
RS778640691 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SHANK3-related disorder
RS77864207 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Autoinflammatory syndrome
RS778642094 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS778642140 XYLT2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, XYLT2-related disorder
RS778642222 EPB41L1 Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, Intellectual disability
RS778645644 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS778646229 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS778646700 YY1AP1 Health Risk Likely pathogenic Grange syndrome, Grange syndrome
RS778647098 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS778647317 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS778647626 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS778649204 THUMPD1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies
RS778649796 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS778650159 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS778651218 GLMN Health Risk Likely pathogenic —
RS778651927 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS778653156 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS778653296 HSPG2 Health Risk Pathogenic/Likely pathogenic Lethal Kniest-like syndrome, Schwartz-Jampel syndrome type 1
RS778655083 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778655919 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778655930 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS778656802 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS778657924 IFNAR2 Health Risk Pathogenic —
RS778658096 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS778658338 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS778658500 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS778661227 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis
RS778661695 COL27A1 Health Risk Pathogenic —
RS778662837 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Inborn genetic diseases
RS778662915 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS778664039 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS778664924 ENO3 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
RS778665661 CDC45 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7
RS778665719 RLBP1 Health Risk Likely pathogenic —
RS778667305 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS778667374 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS778668005 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS778668550 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
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