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
RS1324261340 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS1324262269 NRXN2 Health Risk Conflicting classifications of pathogenicity —
RS1324272731 FERMT1 Health Risk Likely pathogenic —
RS1324280943 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1324310300 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS1324318602 MDH2 Health Risk Likely pathogenic —
RS1324329442 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1324338803 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS1324340897 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1324342513 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1324357775 FANCE Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1324363153 NOTCH2 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS1324418374 ARL6 Health Risk Likely pathogenic Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS1324418611 FREM2 Health Risk Pathogenic —
RS1324421474 FECH Health Risk Pathogenic Protoporphyria, erythropoietic
RS1324430830 DYSF Health Risk Pathogenic Muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1324454897 ARHGAP35 Health Risk Likely pathogenic Martsolf syndrome 1, Martsolf syndrome 1
RS1324468065 MTR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblG, Intellectual disability
RS1324486146 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1324490374 AFG3L2 Health Risk Pathogenic —
RS1324491526 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS1324502895 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1324519932 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1324524747 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1324540640 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS1324553227 PHEX Health Risk Pathogenic —
RS1324553572 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1324562194 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS1324592887 CFTR Health Risk Likely pathogenic Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis
RS1324600079 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1324604027 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1324626785 SCLT1 Health Risk Conflicting classifications of pathogenicity —
RS1324631413 PROM1 Health Risk Pathogenic Stargardt disease, Cone-rod dystrophy 12
RS1324633355 SLURP1 Health Risk Likely pathogenic Acroerythrokeratoderma, Acroerythrokeratoderma
RS1324633537 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1324635932 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS1324636666 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1324641233 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1324648329 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1324654414 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1324667543 IGHMBP2 Health Risk Pathogenic Inborn genetic diseases, Neuronopathy
RS1324674144 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1324701043 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1324713631 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS1324734688 MED23 Health Risk Likely pathogenic —
RS1324740221 ITGA7 Health Risk Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1324743951 DPM1 Health Risk Pathogenic Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS1324754202 CALM2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Cardiovascular phenotype
RS1324759342 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1324762406 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1324781921 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1324785971 TGFBR1 Health Risk Conflicting classifications of pathogenicity See cases, Familial thoracic aortic aneurysm and aortic dissection
RS1324787721 SEC63 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1324794268 POLG Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy
RS1324798326 TTLL5 Health Risk Pathogenic —
RS1324815806 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1324818767 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1324822892 TONSL Health Risk Pathogenic —
RS1324824195 ATP8B1 Health Risk Pathogenic —
RS1324833938 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1324836124 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1324874967 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS1324887048 ATP8B1 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS1324893950 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1324903101 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1324926264 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS1324931037 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1324934886 SAG Health Risk Conflicting classifications of pathogenicity Oguchi disease, Oguchi disease
RS1324937983 CCDC88C Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS1324958803 ABCA4 Health Risk Pathogenic —
RS1324964243 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS1324976737 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1324981567 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS1324983370 NTRK1 Health Risk Pathogenic/Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS1325006359 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1325031228 HMBS Health Risk Pathogenic HMBS-related disorder, Acute intermittent porphyria
RS1325049235 TBCD Health Risk Pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS1325063481 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1325076439 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4
RS1325103400 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS1325104263 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1325125531 TFAP2B Health Risk Likely pathogenic Char syndrome, Char syndrome
RS1325131028 ERCC5 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 3, Cerebrooculofacioskeletal syndrome 3
RS1325133502 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS1325135019 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS1325138029 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1325140069 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1325144749 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1325184426 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS1325190118 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1325218192 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1325251210 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS1325257479 ALDH18A1 Health Risk Pathogenic Inborn genetic diseases, Autosomal dominant spastic paraplegia type 9
RS1325261678 ANKZF1 Health Risk Conflicting classifications of pathogenicity ANKZF1-related disorder, ANKZF1-related disorder
RS1325284144 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1325285497 PKP2 Health Risk Pathogenic Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia 9
RS1325289676 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1325294849 NEFL Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS1325298827 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1325300747 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
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