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
RS35647804 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS35648932 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS35652719 NOTCH1 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Adams-Oliver syndrome 5
RS35654345 HBA1 Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN TWIN PEAKS, HBA1-related disorder
RS35654397 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS35654785 HBD Health Risk Pathogenic delta Thalassemia, delta Thalassemia
RS35654944 CDK6 Health Risk Conflicting classifications of pathogenicity CDK6-related disorder, CDK6-related disorder
RS35656954 FBN1 Health Risk Pathogenic Cardiovascular phenotype, Marfan syndrome
RS35658131 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS35660529 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Lymphangiomyomatosis
RS35661168 HBD Health Risk Pathogenic delta Thalassemia, delta Thalassemia
RS35662066 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS35667374 DLL3 Health Risk Pathogenic —
RS35667704 IGSF10 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, IGSF10-related disorder
RS35669682 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Nephronophthisis 8, Meckel syndrome
RS35669708 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS35670445 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS35670472 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS35672074 NDUFA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS35672478 HBA1 Health Risk Pathogenic; other HEMOGLOBIN AGHIA SOPHIA, Hemoglobin H disease
RS35675577 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS35675714 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS35676114 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS35678180 FOXI1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder
RS35681783 ANK1 Health Risk Pathogenic ANK1-related disorder, Hereditary spherocytosis type 1
RS35684407 HBB Health Risk Pathogenic beta Thalassemia, Beta-thalassemia HBB/LCRB
RS35685286 HBB Health Risk Likely pathogenic HEMOGLOBIN LUFKIN, HEMOGLOBIN LUFKIN
RS35686213 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS35686968 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS35689081 MYO7A Health Risk Pathogenic Usher syndrome type 1B, Rare genetic deafness
RS35689779 PEX2 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
RS35690297 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS35691189 DCC Health Risk Conflicting classifications of pathogenicity Mirror movements 1, DCC-related disorder
RS35693898 HBB Health Risk Pathogenic Hemoglobinopathy, Hemoglobinopathy
RS35694423 MEIOB Health Risk Pathogenic Premature ovarian failure 23, Spermatogenic failure 22
RS35696923 NLRP5 Health Risk Conflicting classifications of pathogenicity NLRP5-related disorder, NLRP5-related disorder
RS35698242 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS35698729 PC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pyruvate carboxylase deficiency
RS35699606 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS35699671 HBB Health Risk Pathogenic HEMOGLOBIN KOREA, Beta-thalassemia HBB/LCRB
RS35701313 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS35703285 HBB Health Risk Pathogenic/Likely pathogenic beta Thalassemia, 8 conditions
RS35705950 MUC5B Health Risk Benign; risk factor Pulmonary fibrosis, idiopathic
RS35706152 IGFALS Health Risk Conflicting classifications of pathogenicity Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS35708442 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS35710727 HBG1 Health Risk Pathogenic British HPFH, Hereditary persistence of fetal hemoglobin
RS35710964 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Hemochromatosis type 2A
RS35717727 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS35717997 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS35719500 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS35719940 TERT Health Risk Conflicting classifications of pathogenicity Leukemia, acute myeloid
RS35721373 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS35723200 HBA1 Health Risk Pathogenic; other HEMOGLOBIN ETHIOPIA, HEMOGLOBIN ROUEN
RS35724775 HBB Health Risk Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS35727744 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Malignant tumor of esophagus
RS35730265 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS35731153 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1
RS35732034 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS35733059 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS35733674 KLB Health Risk Conflicting classifications of pathogenicity KLB-related disorder, KLB-related disorder
RS35736435 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS35737354 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS35737774 SPINK1 Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS35738271 NHERF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS35741240 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS35744605 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS35753085 PCSK1 Health Risk Conflicting classifications of pathogenicity Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS35754835 CLPX Health Risk Conflicting classifications of pathogenicity —
RS35755331 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS357564 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS35759430 MPV17 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MPV17-related disorder
RS35760315 MED13L Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS35762515 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS35763578 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases
RS35763782 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS35765535 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS35765893 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS35766432 CTR9 Health Risk Conflicting classifications of pathogenicity CTR9-related disorder, CTR9-related disorder
RS35766612 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS35768126 MBL2 Health Risk Conflicting classifications of pathogenicity Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
RS35768530 NOTCH1 Health Risk Pathogenic NOTCH1-related disorder, NOTCH1-related disorder
RS35770729 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia
RS35776110 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS35783914 SPECC1L Health Risk Conflicting classifications of pathogenicity Teebi hypertelorism syndrome, Inborn genetic diseases
RS35785705 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS35789242 WFS1 Health Risk Pathogenic —
RS35790168 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS35793832 VHL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS35794236 NLGN3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NLGN3-related disorder
RS35797405 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS35799469 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS35799536 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, Inborn genetic diseases
RS35801418 LRRK2 Health Risk Pathogenic Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS35810926 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS35810986 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS35813094 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS35817154 AKT2 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
RS35818432 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS35819209 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS35819696 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
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