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
RS753596034 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS753596204 ANKLE2 Health Risk Pathogenic Microcephaly 16, primary
RS753596825 WDR19 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5
RS753597039 MCPH1 Health Risk Pathogenic Microcephaly 1, primary
RS753598091 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS753598147 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS753598640 ARHGEF18 Health Risk Pathogenic —
RS753599044 POC1B Health Risk Pathogenic Cone-rod dystrophy 20, Cone-rod dystrophy 20
RS753599265 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS753599401 IFIH1 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS753599581 COL10A1 Health Risk Conflicting classifications of pathogenicity COL10A1-related disorder, Metaphyseal chondrodysplasia
RS753599820 MVK Health Risk Conflicting classifications of pathogenicity Porokeratosis 3, disseminated superficial actinic type
RS753600208 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS753600344 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Inborn genetic diseases
RS753602333 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS753602520 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753603040 NT5C2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 45, Hereditary spastic paraplegia
RS753603407 SLC40A1 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 4, SLC40A1-related disorder
RS753603433 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal dominant
RS753603959 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS753604828 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS753605564 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS753607290 NPHP1 Health Risk Likely pathogenic —
RS753608267 SLC5A5 Health Risk Pathogenic —
RS753609023 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS753609161 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS753609310 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS753610150 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS753611080 ZMYM2 Health Risk Likely pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Congenital anomaly of kidney and urinary tract
RS753611141 PMPCA Health Risk Pathogenic 13 conditions, Autosomal recessive spinocerebellar ataxia 2
RS753611165 VAPB Health Risk Conflicting classifications of pathogenicity Adult-onset proximal spinal muscular atrophy, autosomal dominant
RS753611182 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS753614067 BEST1;FTH1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive bestrophinopathy, Retinal dystrophy
RS753614306 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS753614861 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS753615126 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS753616848 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 3
RS753616960 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS753617680 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS753618006 PLCG2 Health Risk Likely pathogenic Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
RS753618520 DTNBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753618932 ABCC8 Health Risk Likely pathogenic Neonatal diabetes mellitus, Neonatal diabetes mellitus
RS753619551 PCARE Health Risk Pathogenic Retinal dystrophy, Autosomal recessive retinitis pigmentosa
RS753620447 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS753620726 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS753621591 SPINK5 Health Risk Pathogenic Netherton syndrome, Ichthyosis linearis circumflexa
RS753623518 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS753623939 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS753624268 INSR Health Risk Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans, Rabson-Mendenhall syndrome
RS753625117 CNGA3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS753627056 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS753627633 TP63 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 8, TP63-Related Spectrum Disorders
RS753627675 TTC21B Health Risk Pathogenic/Likely pathogenic Renal dysplasia and retinal aplasia, Asphyxiating thoracic dystrophy 4
RS753627680 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS753628301 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS753630034 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS753630324 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS753631084 HNF1B Health Risk Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS753631154 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS753631615 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS753632453 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS753632833 COL7A1 Health Risk Likely pathogenic —
RS753634502 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753634759 MAFB Health Risk Conflicting classifications of pathogenicity Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy
RS753634998 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS753635972 MTHFS Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with microcephaly, epilepsy
RS753636068 CASQ2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2
RS753636102 IMPG1 Health Risk Pathogenic —
RS753637056 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS753638532 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS753638647 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS753638837 UPB1 Health Risk Conflicting classifications of pathogenicity —
RS753638942 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS753639475 SHPK Health Risk Conflicting classifications of pathogenicity —
RS753639706 IGHMBP2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2S, Charcot-Marie-Tooth disease axonal type 2S
RS753640735 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS753640924 TWNK Health Risk Conflicting classifications of pathogenicity Perrault syndrome 5, Perrault syndrome 5
RS753641201 TRAPPC9 Health Risk Pathogenic —
RS753641926 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS753642146 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753643550 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS753643819 GDF1 Health Risk Pathogenic Right atrial isomerism, Right atrial isomerism
RS753644648 NPR2 Health Risk Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS753645186 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Uterine corpus endometrial carcinoma
RS753645200 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Cardiomyopathy
RS753645263 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS753645306 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS753645971 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS753646712 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS753646931 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS753647133 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Duane-radial ray syndrome
RS753647278 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS753648048 DONSON Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS753648112 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS753648691 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS753648991 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS753649082 KIAA0586 Health Risk Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS753649097 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS753649614 DNAAF4 Health Risk Pathogenic Primary ciliary dyskinesia 25, Dyslexia
RS753650233 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
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