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
RS752951518 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS752951804 ASNS Health Risk Pathogenic —
RS752953257 PDYN Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS752953575 TBCD Health Risk Pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS752953762 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS752953889 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS752955761 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752955928 RAG1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS752956052 CARD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Severe combined immunodeficiency due to CARD11 deficiency
RS75295839 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS75296105 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS752961445 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen phosphorylase kinase deficiency
RS752961542 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS752962453 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS752962611 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS752962897 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism
RS752962934 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS752963712 PDE6C Health Risk Conflicting classifications of pathogenicity Cone dystrophy 4, Cone dystrophy 4
RS752964137 IL12B Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
RS752965171 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS752966476 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS752967536 COLQ Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS752967885 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS752968150 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS752968664 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS752969941 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS752970338 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS752970602 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS752971046 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS752971070 DYNC2LI1 Health Risk Pathogenic Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly
RS752971257 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS752971553 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS752971854 SLC6A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyperekplexia 3
RS752973530 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS752974196 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS752974260 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS752974288 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS752974639 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS752974887 SPEN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752975169 CYP11B2 Health Risk Pathogenic —
RS752975676 SOX11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS752976348 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS752976776 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS752977102 APRT Health Risk Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS752977559 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS752977828 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS752977897 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS752978718 LITAF Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases
RS752978753 ACADS Health Risk Pathogenic/Likely pathogenic Hepatocellular carcinoma, Deficiency of butyryl-CoA dehydrogenase
RS752980085 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS752980410 ARMC9 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 30, Joubert syndrome 30
RS752982710 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS752982930 PAPSS2 Health Risk Likely pathogenic —
RS752983885 EHMT1 Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS752984377 ASXL1 Health Risk Pathogenic —
RS752984947 DMXL2 Health Risk Pathogenic —
RS752985118 PCNT Health Risk Pathogenic —
RS752985457 KCNA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32
RS752986448 PCNT Health Risk Pathogenic —
RS752986607 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS752987724 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS752988497 GUCA1B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS752989523 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS752990722 ATP2B2 Health Risk Pathogenic Hearing loss, autosomal dominant 82
RS752991804 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752992134 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS752992319 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS752992414 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS752992432 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS752992538 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Inborn genetic diseases
RS752992572 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS752992990 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS752993761 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS752993876 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS752994574 DEAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DEAF1-related disorder
RS752994816 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS752995216 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, Cerebral arteriopathy
RS752996559 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS752996609 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS752996781 WHRN Health Risk Conflicting classifications of pathogenicity —
RS752997229 PRPF8 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Autosomal dominant retinitis pigmentosa
RS752997536 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS752998267 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS752998397 GLI3 Health Risk Conflicting classifications of pathogenicity Polydactyly, Greig cephalopolysyndactyly syndrome
RS752998754 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS752999955 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Brugada syndrome 1
RS753000765 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS753001959 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS753002023 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Basal cell carcinoma
RS753002290 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS753002884 C8B Health Risk Pathogenic Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS753004247 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS753004431 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS753006232 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS753006983 CEP57 Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2, Inborn genetic diseases
RS753007435 DST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 6
RS753008073 CPLANE1 Health Risk Pathogenic —
RS753008328 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS753008987 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS753009073 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
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