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
RS768552387 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS768553239 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS768553551 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS768554986 CNTNAP1 Health Risk Likely pathogenic Neuropathy, congenital hypomyelinating
RS768555495 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Hypophosphatasia
RS768555883 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS768556456 ATCAY Health Risk Conflicting classifications of pathogenicity Cayman type cerebellar ataxia, Cayman type cerebellar ataxia
RS768556548 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS768557500 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS768557634 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS768557691 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS768558233 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS768558812 PTK2B Health Risk Conflicting classifications of pathogenicity —
RS768559928 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS768560167 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS768560192 KARS1 Health Risk Conflicting classifications of pathogenicity —
RS768560478 PDHX Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS768561754 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS768562214 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4
RS768563000 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS768563098 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS768564000 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS768564404 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS768564642 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS768564744 DNAH17 Health Risk Likely pathogenic Short stature, Short stature
RS768564872 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS768565046 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS768565081 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS768565424 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS768565928 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS768567429 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS768567592 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS768567834 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS768568123 SEC63 Health Risk Pathogenic/Likely pathogenic Polycystic liver disease 2, Autosomal dominant polycystic liver disease
RS768568810 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS768569721 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Otospondylomegaepiphyseal dysplasia
RS768569958 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS768570132 MYO3A Health Risk Conflicting classifications of pathogenicity —
RS768570250 ALB Health Risk Likely pathogenic Analbuminemia, Analbuminemia
RS768570356 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS768570780 ABCC6 Health Risk Likely pathogenic —
RS768570935 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS76857106 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS768571276 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS768572053 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS768572151 IQCB1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS768572372 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS768572485 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS768573052 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS768574664 WASHC4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 43
RS768575047 TECRL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TECRL-related disorder
RS768575372 ABCG8 Health Risk Conflicting classifications of pathogenicity —
RS768575428 CT47B1 Health Risk Conflicting classifications of pathogenicity —
RS768576403 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768577891 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS768580788 PIGT Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS768582274 SETX Health Risk Likely pathogenic —
RS768582290 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS768584961 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS768586475 CYP21A2 Health Risk Likely pathogenic —
RS768587459 GPR179 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness 1E, Retinal dystrophy
RS768587659 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS768588675 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS768589918 ERCC6 Health Risk Pathogenic —
RS768589991 ADGRV1 Health Risk Pathogenic —
RS768590131 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS768590443 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS768591241 COL4A1 Health Risk Pathogenic —
RS768593671 VIPAS39 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS768594224 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS768595656 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS768596169 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS768596219 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS768597948 COL7A1 Health Risk Pathogenic —
RS768598540 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS768599276 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS768599858 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS768600603 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Juvenile nephropathic cystinosis
RS768601611 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS768602040 SECISBP2 Health Risk Likely pathogenic SECISBP2-related disorder, SECISBP2-related disorder
RS768602332 TRAF3IP1 Health Risk Pathogenic —
RS768603598 PRRT2 Health Risk Pathogenic —
RS768604445 SCN11A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial episodic pain syndrome with predominantly lower limb involvement
RS768604742 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early-infantile DEE
RS768604948 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS768605944 BRCA2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D1, Breast-ovarian cancer
RS768606175 GUF1 Health Risk Conflicting classifications of pathogenicity —
RS768606230 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy
RS768607209 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS768608238 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS768608311 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS768608345 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS768608500 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Cardiovascular phenotype
RS768610141 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS768610590 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS768610663 PCDH15 Health Risk Pathogenic —
RS768611153 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS768611849 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS768614412 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS768615287 LRP5 Health Risk Likely pathogenic Postmenopausal osteoporosis, Postmenopausal osteoporosis
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