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
RS371059099 RASA2 Health Risk Conflicting classifications of pathogenicity —
RS371059164 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS371060516 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases
RS371060844 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS371061770 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
RS371062068 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS371063211 ECHS1 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, ECHS1-related disorder
RS371065029 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS371065077 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Inborn genetic diseases
RS371065166 NBEAL2 Health Risk Conflicting classifications of pathogenicity —
RS371065167 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS371065509 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS371066387 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS371066430 TCTN1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 13, Meckel-Gruber syndrome
RS371067379 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Inborn genetic diseases
RS371067421 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS371068504 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS371068679 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS371069043 DYNC2I2 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Melanoma
RS371069660 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS371070297 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS371070916 TTBK2 Health Risk Conflicting classifications of pathogenicity —
RS371071297 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Inborn genetic diseases
RS371071440 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371071557 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS371072906 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS371073215 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS371073356 KDM5B Health Risk Conflicting classifications of pathogenicity —
RS371073556 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS371073764 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS371074761 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS371075036 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS371075249 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS371076634 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS371076898 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS371077545 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS371077728 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS371078173 SYNE4 Health Risk Pathogenic —
RS371080525 MITF Health Risk Conflicting classifications of pathogenicity MITF-related disorder, MITF-related disorder
RS371081043 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371083223 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS371084271 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder
RS371084544 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS371085002 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS371085894 MTHFR Health Risk Conflicting classifications of pathogenicity Intellectual disability, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS371085910 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal adenoma
RS371086182 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS371086728 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS371086981 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A
RS371087154 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS371088367 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2
RS371089348 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 8
RS371089976 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS371090069 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS371090606 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
RS371091564 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS371092262 DNAAF3-AS1;LOC130065090;DNAAF3;TNNI3 Health Risk Conflicting classifications of pathogenicity Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated cardiomyopathy 2A
RS371093730 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Craniopharyngioma
RS371094261 GNAL Health Risk Conflicting classifications of pathogenicity Dystonic disorder, GNAL-related disorder
RS371094406 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS371095430 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS371097218 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan syndrome
RS371097842 CYP4F22 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS371098007 DLC1 Health Risk Conflicting classifications of pathogenicity —
RS371098444 SCNN1B Health Risk Conflicting classifications of pathogenicity Liddle syndrome 1, Pseudohypoaldosteronism
RS371099308 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS371099382 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS371100196 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS371100244 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 7 conditions
RS371100799 CLDN14 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 29, CLDN14-related disorder
RS371101065 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS371102112 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS371102235 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS371102955 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS371103280 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS371103302 PCGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371103773 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS371105248 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS371105298 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS371105614 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS371105660 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS371106595 PLAU Health Risk Conflicting classifications of pathogenicity Quebec platelet disorder, Alzheimer disease type 1
RS371106773 COL18A1 Health Risk Conflicting classifications of pathogenicity COL18A1-related disorder, COL18A1-related disorder
RS371107052 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS371108710 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS371108940 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS371109129 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS371110611 FBN1 Health Risk Conflicting classifications of pathogenicity 8 conditions, Marfan syndrome
RS371111712 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS371112796 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS371112962 NPHP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome with renal defect, Nephronophthisis
RS371113837 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS371114178 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS371114444 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Lung cancer
RS371114946 TTN Health Risk Conflicting classifications of pathogenicity —
RS371114993 NSDHL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371115213 RFX5 Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, RFX5-related disorder
RS371115266 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS371116746 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS371116909 KCNC3 Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
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