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
RS192013345 DHCR24 Health Risk Conflicting classifications of pathogenicity Desmosterolosis, Desmosterolosis
RS192013394 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS192023037 XYLT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS192027050 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS192031352 LAMC3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, LAMC3-related disorder
RS192041220 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS192044702 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS192045738 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS192047082 COL9A1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Stickler syndrome
RS192056427 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS192057022 MYL2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10
RS192059823 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS192060920 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS192078749 COX15 Health Risk Conflicting classifications of pathogenicity Cardioencephalomyopathy, fatal infantile
RS192080780 PTPN11 Health Risk Conflicting classifications of pathogenicity LEOPARD syndrome 1, Noonan syndrome 1
RS192084195 PLCE1 Health Risk Conflicting classifications of pathogenicity PLCE1-related disorder, Inborn genetic diseases
RS1920930432 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS1920931611 TCF20 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS1920933220 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS192093489 MBTPS1 Health Risk Conflicting classifications of pathogenicity —
RS1921012081 TCF20 Health Risk Conflicting classifications of pathogenicity —
RS1921041608 LAMP2 Health Risk Pathogenic —
RS1921053197 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1921088321 TCF20 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1921109201 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1921140611 TCF20 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS1921146718 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS192117840 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Inborn genetic diseases
RS192119790 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Usher syndrome type 2A
RS1921197915 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS192120666 DNAH7 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS192128801 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS192131551 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Uveal melanoma
RS192135533 MYO5B Health Risk Conflicting classifications of pathogenicity MYO5B-related disorder, Inborn genetic diseases
RS1921403332 DCX Health Risk Likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Subcortical laminar heterotopia
RS1921404698 DCX Health Risk Likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
RS192143556 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS192152102 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS192159089 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS1921622 IL1RL1 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS192163925 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS1921663802 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS192167542 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS192171304 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, PCCA-related disorder
RS192173278 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS192176115 GNAT2 Health Risk Conflicting classifications of pathogenicity Achromatopsia 4, Achromatopsia 4
RS192176652 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS1921773433 IL2RB Health Risk Pathogenic —
RS192179523 RIMS1 Health Risk Conflicting classifications of pathogenicity —
RS1921817445 PIGA Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2, Paroxysmal nocturnal hemoglobinuria 1
RS1921817809 PIGA Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS192188850 CHMP2B Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, CHMP2B-related disorder
RS192191038 PKLR Health Risk Likely pathogenic —
RS1921924356 PIGA Health Risk Likely pathogenic Paroxysmal nocturnal hemoglobinuria 1, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS192196274 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS192196713 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
RS192197684 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1922018671 IL2RB Health Risk Likely pathogenic —
RS192206443 PDSS2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Malignant tumor of esophagus
RS1922072844 IL2RB Health Risk Pathogenic Immunodeficiency 63 with lymphoproliferation and autoimmunity, Immunodeficiency 63 with lymphoproliferation and autoimmunity
RS192207329 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS1922162801 PIGA Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS192216625 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1922171377 TSR2;FGD1 Health Risk Pathogenic —
RS1922179572 PIGA Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS192221816 A2ML1 Health Risk Conflicting classifications of pathogenicity A2ML1-related disorder, A2ML1-related disorder
RS192225415 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS192227753 MPDZ Health Risk Conflicting classifications of pathogenicity Hydrocephalus, nonsyndromic
RS1922317423 FGD1 Health Risk Likely pathogenic —
RS192232825 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS192232907 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1922347865 FGD1 Health Risk Likely pathogenic Aarskog syndrome, Aarskog syndrome
RS192234924 OTOGL Health Risk Conflicting classifications of pathogenicity —
RS192236678 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS192239366 RDX Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 24, RDX-related disorder
RS192242583 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
RS192242889 UNC80 Health Risk Conflicting classifications of pathogenicity UNC80-related disorder, UNC80-related disorder
RS192248377 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Nemaline myopathy 5
RS1922506770 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS1922524280 PTCHD1 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1922605766 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS1922607139 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS1922607301 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS192260997 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS192262279 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Rabin-Pappas syndrome
RS192264403 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-related disorder
RS192268080 CDAN1 Health Risk Conflicting classifications of pathogenicity Anemia, congenital dyserythropoietic
RS192272765 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS192275019 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1922801133 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS192285113 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS1922859149 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS1922869724 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS1922871430 PTCHD1 Health Risk Likely pathogenic —
RS1922885735 PTCHD1 Health Risk Pathogenic —
RS1922892999 PTCHD1 Health Risk Likely pathogenic Non-syndromic X-linked intellectual disability, Non-syndromic X-linked intellectual disability
RS192296154 IQCB1 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 5, Nephronophthisis
RS192302611 PSEN1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1U, Alzheimer disease 3
RS192303222 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1923115287 BMP15 Health Risk Likely pathogenic Ovarian dysgenesis 2, Ovarian dysgenesis 2
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