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
RS768810807 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-related disorder
RS768811436 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS768812143 EZH2 Health Risk Conflicting classifications of pathogenicity Weaver syndrome, Weaver syndrome
RS768813228 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS768813865 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS768814260 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS768814501 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group L
RS768814631 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768814728 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS76881473 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Connective tissue disorder
RS768814872 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS76881554 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS768816557 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS768817065 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS768817257 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS768819559 ADGRA3 Health Risk Conflicting classifications of pathogenicity —
RS768820364 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
RS768820409 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS768820804 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS768820873 WDR73 Health Risk Likely pathogenic Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS768821093 ANKRD26 Health Risk Conflicting classifications of pathogenicity —
RS768821549 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS768823146 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Deafness
RS768823392 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS768824483 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS768824654 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS768825050 XRCC4 Health Risk Pathogenic Short stature, microcephaly
RS768825317 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS768826001 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS768826048 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS768826552 TAMM41 Health Risk Pathogenic Dysphagia, Bilateral ptosis
RS768826988 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS768827690 CA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768829550 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS768830617 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3
RS768830699 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS768831064 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS768831308 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS768831533 CFAP43 Health Risk Pathogenic Spermatogenic failure 19, Spermatogenic failure 19
RS768831597 ANO10 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS768832709 ADPRS Health Risk Pathogenic ADPRHL2-related disorder, ADPRHL2-related disorder
RS768832921 DBT Health Risk Pathogenic Maple syrup urine disease type 2, Maple syrup urine disease
RS768833241 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS768833543 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS768834079 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS768834170 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS768834390 GYG1 Health Risk Pathogenic Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS768834542 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS768834663 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
RS768834772 CDH23 Health Risk Pathogenic Pituitary adenoma 5, multiple types
RS768835530 ANO5 Health Risk Pathogenic Miyoshi muscular dystrophy 3, Miyoshi muscular dystrophy 3
RS768836114 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS768836349 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS768836895 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS768836936 NOTCH1 Health Risk Conflicting classifications of pathogenicity Myeloproliferative neoplasm, unclassifiable
RS768837125 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS768837509 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS768837921 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS768838928 CNTN1 Health Risk Conflicting classifications of pathogenicity Compton-North congenital myopathy, Compton-North congenital myopathy
RS768838951 SGCB Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS768841078 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS768841574 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease
RS768842269 DAND5 Health Risk Pathogenic/Likely pathogenic Heterotaxy, Heterotaxy
RS768844200 MAGEL2 Health Risk Pathogenic/Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS768845190 CARD9 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS768846788 RLIM Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 61
RS768847037 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Piebaldism
RS768847609 PNKP Health Risk Pathogenic/Likely pathogenic Abnormality of the nervous system, Inborn genetic diseases
RS768848335 SLC2A10 Health Risk Likely pathogenic Arterial tortuosity syndrome, Malignant tumor of urinary bladder
RS768848657 ROR2 Health Risk Likely pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS768848958 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS768849266 NMNAT2 Health Risk Likely pathogenic —
RS768849283 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis
RS768850329 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS768851752 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS768852284 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS768852944 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS768853291 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS768853338 PRSS1 Health Risk Likely pathogenic —
RS768854566 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS768855225 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS768856558 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS768857374 CCDC39 Health Risk Conflicting classifications of pathogenicity —
RS768857448 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS768857765 TPM1 Health Risk Conflicting classifications of pathogenicity —
RS768858586 SIX3 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 2, Inborn genetic diseases
RS768858662 FOXI1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS768858742 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS768858918 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS768858988 TRIO Health Risk Conflicting classifications of pathogenicity Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Intellectual developmental disorder
RS768861538 PLEKHA7 Health Risk Likely pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
RS768861556 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768863116 CHRNA1 Health Risk Pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS768863219 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, KDM6A-related disorder
RS768863607 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS768864105 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS768864353 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS768864684 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS768864797 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS768864900 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
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