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
RS1562914212 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Hereditary pancreatitis
RS1562914641 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562914838 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562917450 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1562917629 CCM2 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562919371 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1562919685 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1562921605 CCM2 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562922141 SYNE1 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 3, myogenic type
RS1562923164 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562923253 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562925631 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1562927768 KMT2E Health Risk Pathogenic/Likely pathogenic O'Donnell-Luria-Rodan syndrome, See cases
RS1562928193 KMT2E Health Risk Pathogenic Intellectual disability, O'Donnell-Luria-Rodan syndrome
RS1562928854 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562928927 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1562928997 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1562929196 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1562929573 CFTR Health Risk Likely pathogenic —
RS1562929623 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1562929633 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1562929636 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1562931107 BRAF Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Cardiofaciocutaneous syndrome 1
RS1562931936 KMT2E Health Risk Likely pathogenic See cases, O'Donnell-Luria-Rodan syndrome
RS1562937199 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1562938039 AKR1D1 Health Risk Likely pathogenic —
RS1562938346 KMT2E Health Risk Pathogenic —
RS1562940289 TRRAP Health Risk Pathogenic Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS1562945106 TRRAP Health Risk Conflicting classifications of pathogenicity Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS1562945221 ABCB4 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS1562949296 ABCB4 Health Risk Pathogenic —
RS1562950567 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS1562955153 BRAF Health Risk Likely pathogenic RASopathy, RASopathy
RS1562956929 BRAF Health Risk Likely pathogenic RASopathy, RASopathy
RS1562957000 BRAF Health Risk Conflicting classifications of pathogenicity Noonan syndrome 7, Noonan syndrome 7
RS1562957569 TRRAP Health Risk Pathogenic Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS1562957576 TRRAP Health Risk Pathogenic Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS1562957809 AUTS2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 57
RS1562961442 ABCB4 Health Risk Pathogenic —
RS1562961475 RELN Health Risk Pathogenic —
RS1562961725 RUNX2 Health Risk Pathogenic —
RS1562963055 ABCB4 Health Risk Pathogenic —
RS1562965036 ABCB4 Health Risk Pathogenic Cholestasis, intrahepatic
RS1562965098 ABCB4 Health Risk Pathogenic —
RS1562965250 ABCB4 Health Risk Pathogenic —
RS1562967226 EPHB4 Health Risk Pathogenic/Likely pathogenic EPHB4-related disorder, EPHB4-related disorder
RS1562967463 EPHB4 Health Risk Pathogenic Lymphatic malformation 7, Lymphatic malformation 7
RS1562969219 EPHB4 Health Risk Pathogenic/Likely pathogenic Capillary malformation-arteriovenous malformation 2, EPHB4-related disorder
RS1562972354 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1562972380 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1562973480 EPHB4 Health Risk Pathogenic —
RS1562973541 EPHB4 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1562973614 EPHB4 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1562975541 ABCB4 Health Risk Pathogenic —
RS1562976061 ABCB4 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS1562976167 ABCB4 Health Risk Pathogenic —
RS1562976223 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis
RS1562976422 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Cholestasis
RS1562976493 EPHB4 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1562977912 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1562980610 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Inborn genetic diseases
RS1562980939 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1562981766 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1562981898 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1562981913 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Long telomere syndrome
RS1562983272 ABCB4 Health Risk Pathogenic —
RS1562983531 ABCB4 Health Risk Pathogenic —
RS1562984446 SYNE1 Health Risk Pathogenic —
RS1562988165 ABCB4 Health Risk Pathogenic —
RS1562988323 PKD1L1 Health Risk Likely pathogenic PKD1L1-related disorder, PKD1L1-related disorder
RS1562988883 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS1562989885 ABCB4 Health Risk Pathogenic —
RS1562989913 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 10
RS1562991002 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS1562991776 FLNC Health Risk Likely pathogenic Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS1562992108 LAMB1 Health Risk Pathogenic —
RS1562993312 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1562993384 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1562995872 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1562995883 FLNC Health Risk Likely pathogenic —
RS1562996059 PKD1L1 Health Risk Pathogenic —
RS1562996441 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1562997249 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1562997292 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1562998062 FLNC Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 26, Cardiovascular phenotype
RS1562998089 IMPDH1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1562998858 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS1562999443 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS1562999451 FLNC Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1563000044 FLNC Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS1563001456 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Dilated Cardiomyopathy
RS1563001474 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy
RS1563001548 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS1563003153 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS1563003159 FLNC Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 26
RS1563003848 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS1563003964 NCF1 Health Risk Pathogenic Granulomatous disease, chronic
RS1563005360 FLNC Health Risk Pathogenic 7 conditions, 7 conditions
RS1563005534 FLNC Health Risk Pathogenic Restrictive cardiomyopathy, Restrictive cardiomyopathy
RS1563005607 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
« Prev 1 ... 973 974 975 976 977 978 979 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →