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
RS754643632 ST3GAL5 Health Risk Pathogenic/Likely pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS754643779 HSPG2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS754645078 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS754645461 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS754645487 HTRA1 Health Risk Likely pathogenic —
RS754646220 ABCC2 Health Risk Pathogenic —
RS754646330 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS754646406 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS754646501 ACAD9 Health Risk Conflicting classifications of pathogenicity —
RS754646763 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS754647491 AGPS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754647829 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS754648125 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS754649826 RINT1 Health Risk Pathogenic —
RS754650075 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS754650765 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754650766 UPF3B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Syndromic X-linked intellectual disability 14
RS754651519 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS754651566 LOXHD1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome, Inborn genetic diseases
RS754652044 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Lung cancer
RS754652471 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS754653320 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS754653682 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS754653701 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS754654473 TYR Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS754654892 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS754655315 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS754655363 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS754656023 NADK2 Health Risk Conflicting classifications of pathogenicity Progressive encephalopathy with leukodystrophy due to DECR deficiency, Bardet-Biedl syndrome 10
RS754657555 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS754657948 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754658907 TG Health Risk Pathogenic Autoimmune thyroid disease, susceptibility to
RS754659423 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS754659441 BICD2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS754659608 ENPP1 Health Risk Pathogenic/Likely pathogenic ENPP1-related disorder, ENPP1-related disorder
RS754659903 ASAH1 Health Risk Likely pathogenic ASAH1-related disorders, ASAH1-related disorders
RS754660381 CYP11B1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
RS754660432 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS75466054 CHAT Health Risk Pathogenic Familial infantile myasthenia, Congenital myasthenic syndrome
RS754661359 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS754661378 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS754664476 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS754664563 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS754664923 TPM1 Health Risk Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS754667036 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS754667407 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS754667801 ABCB6 Health Risk Pathogenic Familial pseudohyperkalemia, Familial pseudohyperkalemia
RS754668208 NIN Health Risk Conflicting classifications of pathogenicity Seckel syndrome 7, Seckel syndrome 7
RS754668472 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS754668616 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS754669149 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS754671210 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS754671742 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS754672490 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS754672983 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754673524 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS754673606 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS754674622 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS754675590 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS754675891 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS754675958 POP1 Health Risk Pathogenic —
RS754676104 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS754676663 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS754676727 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS754677943 SLC7A13 Health Risk Conflicting classifications of pathogenicity —
RS754678956 LRPPRC Health Risk Conflicting classifications of pathogenicity —
RS754679070 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS754679651 XYLT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754680319 PSAP Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Sphingolipid activator protein 1 deficiency
RS754680848 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS754681578 TECTA Health Risk Pathogenic/Likely pathogenic —
RS754682495 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS754683361 TUBB3 Health Risk Conflicting classifications of pathogenicity —
RS754683462 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Congenital generalized lipodystrophy type 2
RS754684285 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS754684491 MAST1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754685052 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS754686930 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS754687282 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS754687998 WARS2 Health Risk Likely pathogenic —
RS754690619 RASGRP1 Health Risk Likely pathogenic —
RS754690894 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS754691019 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS754691182 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS754691867 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS754693143 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS754693386 GPR143 Health Risk Conflicting classifications of pathogenicity —
RS754693395 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754693509 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754694089 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS75469429 GJC2 Health Risk Pathogenic Hereditary spastic paraplegia 44, Hereditary spastic paraplegia 44
RS754694815 DIO1 Health Risk Pathogenic Thyroid hormone metabolism, abnormal
RS754698253 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS754699043 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754699583 RPSA Health Risk Conflicting classifications of pathogenicity Familial isolated congenital asplenia, Familial isolated congenital asplenia
RS754699681 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Inborn genetic diseases
RS754699820 ITGA7 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS754700207 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS754701941 ALOXE3 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS754702218 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
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