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
RS530916890 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Inborn genetic diseases
RS530918606 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS530921368 EYA1 Health Risk Conflicting classifications of pathogenicity Melnick-Fraser syndrome, Inborn genetic diseases
RS530923760 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS530924728 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS530927636 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS530931929 PAX6 Health Risk Conflicting classifications of pathogenicity Foveal hypoplasia 1, 11p partial monosomy syndrome
RS530935116 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early-infantile DEE
RS530941076 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian neoplasm
RS530949155 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS530949904 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS530955658 INSR Health Risk Conflicting classifications of pathogenicity Rabson-Mendenhall syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS530959653 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS530964770 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS530975087 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS530979152 ADA2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Deficiency of adenosine deaminase 2
RS530993704 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS530999984 IFT52 Health Risk Pathogenic Short-rib thoracic dysplasia 16 with or without polydactyly, Short-rib thoracic dysplasia 16 with or without polydactyly
RS531000872 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS531005522 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS531009160 IFITM5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 5, Osteogenesis imperfecta type 5
RS531012485 AGPAT2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS531021258 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS531024131 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS531029519 SLC7A9 Health Risk Conflicting classifications of pathogenicity —
RS531036279 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS531038145 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS531047131 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Inborn genetic diseases
RS531051064 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS531059492 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS531059713 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS531061783 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS531068389 CEP57 Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2, Inborn genetic diseases
RS531073647 MARVELD2 Health Risk Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 49
RS531080009 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS531081279 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS531089786 RMRP Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, Anauxetic dysplasia
RS531090481 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS531099221 MCM8 Health Risk Likely pathogenic Premature ovarian failure 10, Premature ovarian failure 10
RS531100141 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS531101773 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS531103546 C7 Health Risk Pathogenic/Likely pathogenic Complement component 7 deficiency, Complement component 7 deficiency
RS531105528 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS531108921 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS531109296 ABCA4 Health Risk Pathogenic ABCA4-related retinopathy, ABCA4-related retinopathy
RS531119114 LYZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyloidosis
RS531129429 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder
RS531131529 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microcephaly 5
RS531143989 PRDM5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS531148057 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS531152715 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS531159549 OBSCN Health Risk Likely pathogenic —
RS531161419 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Inborn genetic diseases
RS531161884 CACNA1C Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Brugada syndrome 3
RS531163149 MTSS2 Health Risk Likely pathogenic Iron deposition in globus pallidus, Microcephaly
RS531165708 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS531178000 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS531183918 LEPR Health Risk Conflicting classifications of pathogenicity Obesity due to leptin receptor gene deficiency, LEPR-related disorder
RS531184069 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS531187028 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS531195164 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS531197147 KIAA0586 Health Risk Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS531205284 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS531210457 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS531216195 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS531222847 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS531224038 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS531225271 F7 Health Risk Pathogenic/Likely pathogenic Factor VII deficiency, Congenital factor VII deficiency
RS531228202 MYBPC3 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
RS531230573 ADNP Health Risk Conflicting classifications of pathogenicity See cases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS531238169 SRCAP Health Risk Conflicting classifications of pathogenicity Developmental delay, hypotonia
RS531239712 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, ATP6V1B1-related disorder
RS531242797 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS531245154 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS531247856 LAMA5 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS531253434 OBSCN Health Risk Pathogenic Rhabdomyolysis, susceptibility to
RS531254130 NDUFAF5 Health Risk Likely pathogenic Inborn genetic diseases, Mitochondrial complex I deficiency
RS531257362 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS531261130 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS531264662 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS531265357 PRR12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuroocular syndrome 1
RS531265943 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS531273434 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS531275086 LYRM7 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8
RS531276835 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS531279290 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder
RS531281558 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS531282669 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS531290475 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, SLC25A38-related disorder
RS531299414 KRT5 Health Risk Likely pathogenic —
RS531303537 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS531303883 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS531318079 HSF4 Health Risk Likely pathogenic —
RS531326479 WNT10A Health Risk Conflicting classifications of pathogenicity Odonto-onycho-dermal dysplasia, Schöpf-Schulz-Passarge syndrome
RS531337325 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS531341535 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS531362960 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, Inborn genetic diseases
RS531373470 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS531385270 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS531393117 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
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