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
RS778103494 B2M Health Risk Conflicting classifications of pathogenicity Hypoproteinemia, hypercatabolic
RS778103632 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS778104284 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS778104648 DLG4 Health Risk Pathogenic Inborn genetic diseases, Intellectual developmental disorder 62
RS778104957 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS778105019 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS778106503 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS778107057 INS Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 10, Transient Neonatal Diabetes
RS778109389 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS778110397 USH1C Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS778110583 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS778110660 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS778110879 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS778111121 ADGRV1 Health Risk Pathogenic —
RS778111473 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS778112130 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS778112618 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS778113360 PCYT2 Health Risk Likely pathogenic Spastic paraplegia 82, autosomal recessive
RS778114016 CNGA3 Health Risk Pathogenic Achromatopsia 2, Retinal dystrophy
RS778114608 CTLA4 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS778115137 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
RS778115255 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS778116528 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS778117119 ABCC8 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Leucine-induced hypoglycemia
RS778117194 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS778118145 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS778118886 CFAP53 Health Risk Pathogenic Heterotaxy, Heterotaxy
RS778119481 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS778119853 ATXN2 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, GM3 synthase deficiency
RS778120270 FASTKD2 Health Risk Pathogenic Leigh syndrome, Combined oxidative phosphorylation deficiency 44
RS778120777 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS778121031 RAD9B Health Risk Pathogenic Neural tube defect, Neural tube defect
RS778121117 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS778121403 DIP2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778121647 HPSE2 Health Risk Pathogenic Urofacial syndrome type 1, HPSE2-related disorder
RS778121932 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778122189 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS778122446 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS778123057 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS778123798 B3GALT6 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, spondylodysplastic type
RS778123895 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS778124617 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS778124698 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS778124994 MIEF1 Health Risk Pathogenic Optic atrophy 14, Optic atrophy 14
RS778125254 PRKN Health Risk Likely pathogenic —
RS778125255 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778125780 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS778126344 MCM3AP Health Risk Pathogenic —
RS778126823 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS778126842 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS778127154 ALDH5A1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Succinate-semialdehyde dehydrogenase deficiency
RS778127887 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS778128095 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS778129335 COL6A2 Health Risk Pathogenic —
RS778129557 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS778130619 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS778131120 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS778131915 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS778132572 TFG Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy, Okinawa type
RS778133443 TARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
RS778133480 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS77813459 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS778134705 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS778135376 MCPH1 Health Risk Pathogenic —
RS778135438 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
RS778135669 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS778135776 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778135894 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS778136645 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS778137720 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W
RS778138685 EPHB4 Health Risk Likely pathogenic —
RS778139192 KIF7 Health Risk Pathogenic Acrocallosal syndrome, KIF7-related disorder
RS778141083 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS778141653 KCND3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS778142232 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS778143816 FDXR Health Risk Likely pathogenic FDXR-related disorder, FDXR-related disorder
RS778144394 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778145106 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS77814513 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS778145751 USP9Y Health Risk Pathogenic Spermatogenic failure, Y-linked
RS778146041 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Inborn genetic diseases
RS778146668 ICOS Health Risk Pathogenic Immunodeficiency, common variable
RS778147500 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS778147657 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS778149316 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS778152054 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS778152746 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS778153007 LAMB1 Health Risk Conflicting classifications of pathogenicity —
RS778153326 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS778154365 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Inborn genetic diseases
RS778154939 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS778155315 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS778155362 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS778155409 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS778155466 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS778155926 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS778156516 BACH2 Health Risk Conflicting classifications of pathogenicity —
RS778157137 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS778157321 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS778158406 PNPLA1 Health Risk Pathogenic —
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