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
RS1584873058 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1584875099 EZH2 Health Risk Likely pathogenic Weaver syndrome, Weaver syndrome
RS1584876240 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1584876832 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1584876914 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1584877029 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1584877113 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1584878137 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1584878246 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1584881309 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1584881660 KRIT1 Health Risk Pathogenic —
RS1584883087 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome 2
RS1584883377 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS1584883517 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1584885912 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome
RS1584891562 - Health Risk Pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1584895416 SUN1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS1584901211 CEP41 Health Risk Pathogenic Joubert syndrome 15, Joubert syndrome 15
RS1584902091 SERPINE1 Health Risk Likely pathogenic Abnormal bleeding, Abnormal bleeding
RS1584907924 ATP6V0A4 Health Risk Likely pathogenic Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis
RS1584914144 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1584916464 CEP41 Health Risk Pathogenic Joubert syndrome 15, Joubert syndrome 15
RS1584922011 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1584925614 IKZF1 Health Risk Conflicting classifications of pathogenicity Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1584926038 IKZF1 Health Risk Conflicting classifications of pathogenicity Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1584926133 IKZF1 Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1584934951 ATP6V0A4 Health Risk Pathogenic Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
RS1584941533 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS1584941903 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer
RS1584943653 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1584953171 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1584953276 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1584953336 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1584956408 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS1584957997 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1584959989 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1584969672 FOXP2 Health Risk Pathogenic Childhood apraxia of speech, Childhood apraxia of speech
RS1584975743 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1584976350 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1584977236 COG5 Health Risk Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1584981589 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1585016242 UBN2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1585020100 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1585040113 IKZF1 Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1585100306 FGF20 Health Risk Likely pathogenic Renal hypodysplasia/aplasia 2, Renal hypodysplasia/aplasia 2
RS1585151245 FLNC Health Risk Likely pathogenic —
RS1585151331 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1585151371 CNTNAP2 Health Risk Likely pathogenic —
RS1585152751 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1585156327 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1585156450 FLNC Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1585156701 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1585157354 FLNC Health Risk Likely pathogenic Cardiovascular phenotype, Gastric cancer
RS1585159401 FLNC Health Risk Conflicting classifications of pathogenicity Dilated Cardiomyopathy, Dominant
RS1585161170 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1585162066 FLNC Health Risk Pathogenic/Likely pathogenic FLNC-related disorder, Cardiovascular phenotype
RS1585163755 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1585164316 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1585166393 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1585166614 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1585166795 FLNC Health Risk Pathogenic/Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS1585167678 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1585168573 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1585169831 FLNC Health Risk Pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS1585169973 FLNC Health Risk Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1585171628 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1585171818 FLNC Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS1585172022 FLNC Health Risk Likely pathogenic —
RS1585173340 FLNC Health Risk Pathogenic Myofibrillar myopathy, Myofibrillar myopathy 5
RS1585190351 RHOBTB2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 64
RS1585211048 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS1585214453 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS1585215916 TUSC3 Health Risk Pathogenic Intellectual disability, autosomal recessive 7
RS1585224312 PEX1 Health Risk Likely pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1585231093 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1585237892 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS1585238595 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS1585244586 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS1585248089 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS1585254187 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1585255490 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS1585256207 ATP6V1B2 Health Risk Pathogenic Zimmermann-Laband syndrome with epileptic encephalopathy, Zimmermann-Laband syndrome with epileptic encephalopathy
RS1585260993 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS1585330590 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS1585339231 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS1585389705 ESCO2 Health Risk Pathogenic Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS1585409238 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1585411632 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585420294 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS1585427471 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1585427710 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585429783 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS1585440064 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1585440764 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1585449207 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1585455586 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585478303 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1585478310 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Ovarian cancer
RS1585478331 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585483030 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
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