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
RS698761 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS6991 RPS17 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 4, Diamond-Blackfan anemia
RS7024732 RMRP Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, Anauxetic dysplasia
RS7038559 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS7080536 HABP2 Health Risk Conflicting classifications of pathogenicity Venous thromboembolism, susceptibility to
RS7083776 TACC2 Health Risk Conflicting classifications of pathogenicity —
RS708494 PTGER2 Health Risk risk factor Asthma, aspirin-induced
RS70940811 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS70953658 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS70953659 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS70953661 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS70958400 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
RS70961716 CD36 Health Risk Likely pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS7102584 KCNJ5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS71028466 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS71036212 LTBP3 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Geleophysic dysplasia 3
RS7110737 CD44 Health Risk association Nephrolithiasis, calcium oxalate
RS7116126 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS7116432 CD44 Health Risk association Nephrolithiasis, calcium oxalate
RS71180116 HTT Health Risk Likely pathogenic Huntington disease, Huntington disease
RS71180793 OBSCN Health Risk Conflicting classifications of pathogenicity OBSCN-related disorder, OBSCN-related disorder
RS7122089 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS71230307 DDX11 Health Risk Conflicting classifications of pathogenicity —
RS7124179 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, SLC25A22-related disorder
RS71245621 LHCGR Health Risk Pathogenic Leydig cell agenesis, Leydig cell agenesis
RS712701 PAX4 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Type 2 diabetes mellitus
RS7129781 CYP2R1 Health Risk association Pulmonary disease, chronic obstructive
RS71310379 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, Cowden syndrome
RS7131391 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, NECTIN1-related disorder
RS71318369 CLCN2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, JUVENILE MYOCLONIC
RS71329437 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS71352737 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Sudden cardiac death
RS7138803 - Health Risk risk factor Obesity, Obesity
RS71389430 MVP Health Risk Conflicting classifications of pathogenicity —
RS71389806 KATNIP Health Risk Conflicting classifications of pathogenicity Joubert syndrome 26, Joubert syndrome 26
RS71393436 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS713993043 DYNC1H1 Health Risk Likely pathogenic Spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2O
RS713993044 MEOX1 Health Risk Pathogenic Klippel-Feil syndrome 2, autosomal recessive
RS713993045 IMPG1 Health Risk Conflicting classifications of pathogenicity Vitelliform macular dystrophy 4, Retinal dystrophy
RS713993046 IMPG1 Health Risk Pathogenic Vitelliform macular dystrophy 4, Vitelliform macular dystrophy 2
RS713993047 IMPG1 Health Risk Conflicting classifications of pathogenicity Vitelliform macular dystrophy 4, Retinal dystrophy
RS713993048 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS713993049 IMPG2 Health Risk Likely pathogenic Vitelliform macular dystrophy 5, Retinal dystrophy
RS713993050 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, ABCD1-related disorder
RS71423567 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS71428908 SCN9A Health Risk Conflicting classifications of pathogenicity 6 conditions, Neuropathy
RS71441018 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS71454844 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, CACNA2D4-related disorder
RS71455367 PRB3 Health Risk Pathogenic PRB3S(CYS), PRB3S(CYS)
RS7145692 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 8, TTC8-related disorder
RS71458427 ROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 7, digenic
RS71467648 FBN1 Health Risk Likely pathogenic 8 conditions, 8 conditions
RS71470654 KCNJ5 Health Risk Conflicting classifications of pathogenicity Familial hyperaldosteronism type III, Familial hyperaldosteronism type III
RS71470655 KCNJ5 Health Risk Conflicting classifications of pathogenicity Familial hyperaldosteronism type III, Familial hyperaldosteronism type III
RS71507808 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
RS71524349 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Monogenic diabetes
RS71524350 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS71524353 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, WFS1-Related Spectrum Disorders
RS71524356 WFS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Wolfram syndrome 1
RS71524360 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6
RS71524374 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS71524377 WFS1 Health Risk Uncertain significance/Uncertain risk allele WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS71524381 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS71524394 WFS1 Health Risk Pathogenic —
RS71526454 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS71526458 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Type 2 diabetes mellitus
RS71526461 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS71526470 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS71530904 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS71530909 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS71530910 WFS1 Health Risk Pathogenic Inborn genetic diseases, Wolfram syndrome 1
RS71530911 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS71530914 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS71530915 WFS1 Health Risk Likely pathogenic —
RS71530923 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6
RS71530925 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS71530928 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Cataract 41
RS71532861 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS71532862 WFS1 Health Risk Pathogenic/Likely pathogenic Optic atrophy, Wolfram syndrome 1
RS71532863 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
RS71532864 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Monogenic hearing loss
RS71532874 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, Monogenic diabetes
RS71534236 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS71534242 BCHE Health Risk Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase, BCHE-related disorder
RS71534278 MYPN Health Risk Conflicting classifications of pathogenicity Familial hypertrophic cardiomyopathy 22, Dilated cardiomyopathy 1KK
RS71534280 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS71537675 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS71537685 WFS1 Health Risk Conflicting classifications of pathogenicity Cataract 41, Wolfram-like syndrome
RS71539657 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Autosomal dominant nonsyndromic hearing loss 6
RS71539659 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS71539668 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS71539673 WFS1 Health Risk Pathogenic Wolfram-like syndrome, Wolfram-like syndrome
RS71539689 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS71560821 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS7156206 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS71578983 NEBL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS71579353 VCL Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 15, Cardiovascular phenotype
RS71579355 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS71579374 VCL Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS71579379 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiomyopathy
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