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
RS755263466 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Malignant tumor of breast
RS755264102 ABCA1 Health Risk Pathogenic —
RS755265316 GBA1 Health Risk Likely pathogenic Gaucher disease type II, Gaucher disease type II
RS755265519 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS755265819 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS755267357 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS755267771 DDHD2 Health Risk Pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS755268691 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS755269372 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS755270593 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS755271052 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS755272017 MFRP Health Risk Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS75527207 CFTR Health Risk Likely pathogenic Cystic fibrosis, Hereditary pancreatitis
RS755272601 CACNB4 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 5, Episodic ataxia type 5
RS755272769 ATR Health Risk Likely pathogenic —
RS755276378 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS755276554 ITSN1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS755276577 MPDZ Health Risk Pathogenic MPDZ-related disorder, MPDZ-related disorder
RS755277543 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS755277801 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS755278391 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases
RS755279097 GFER Health Risk Conflicting classifications of pathogenicity —
RS755279298 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS755279579 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS755280013 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome
RS755283040 TET2 Health Risk Pathogenic —
RS755284496 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS755284666 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS75528494 GBA1 Health Risk Likely pathogenic Gaucher disease, Gaucher disease
RS755285181 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS755285941 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS755287045 MAPK8IP3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS755287192 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS755287426 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS755287627 ANK2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS755288092 CANT1 Health Risk Conflicting classifications of pathogenicity —
RS755288504 INVS Health Risk Pathogenic/Likely pathogenic Infantile nephronophthisis, Nephronophthisis
RS75528968 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS755289850 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS755290745 EPS8L2 Health Risk Likely pathogenic —
RS755291689 IDH2 Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
RS755292321 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755292491 NALCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755294265 KIDINS220 Health Risk Likely pathogenic Spastic paraplegia, intellectual disability
RS755295390 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS755295556 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS755298136 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS755298693 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS755299132 AUH Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS755299634 CPAP Health Risk Pathogenic —
RS755299669 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS755300564 KCNE3 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 6, Cardiovascular phenotype
RS755301027 CDKN1B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS755301795 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS755302593 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS755303686 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS755304444 MYO3A Health Risk Pathogenic —
RS755305281 BCS1L Health Risk Conflicting classifications of pathogenicity GRACILE syndrome, GRACILE syndrome
RS755305465 GYS1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS755305630 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS755306597 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS755306741 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS755306757 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS755306887 PHIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755307689 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS755307749 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS755308070 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS755308448 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS755309416 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS755310507 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Migraine
RS755311638 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5
RS755311871 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS755312472 NDUFV1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS755312623 POLR3B Health Risk Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS755312854 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS755313774 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS755313812 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Inborn genetic diseases
RS755313904 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS755314355 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS755314562 RNF168 Health Risk Pathogenic/Likely pathogenic RIDDLE syndrome, RIDDLE syndrome
RS755314719 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS755315398 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS755315693 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS755316066 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS755317735 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS755318029 KIFBP Health Risk Likely pathogenic —
RS755319650 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, Medulloblastoma
RS755320741 NAF1 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS755322593 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755322616 LIFR Health Risk Pathogenic Connective tissue disorder, Connective tissue disorder
RS755322824 HRAS Health Risk Likely pathogenic —
RS755323236 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS755324231 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS755324255 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS755325663 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS755325901 PDE6B Health Risk Pathogenic —
RS755328181 VPS13A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755328329 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder
RS755328574 WFS1 Health Risk Uncertain significance/Uncertain risk allele Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS755328835 VLDLR Health Risk Likely pathogenic —
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