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
RS1439733262 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS143973840 MYH3 Health Risk Pathogenic Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS143974068 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Inborn genetic diseases
RS143974143 CCNF Health Risk Conflicting classifications of pathogenicity —
RS143974450 ATP2B4 Health Risk Conflicting classifications of pathogenicity —
RS143974891 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS143975097 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS143975327 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS143975631 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, CBL-related disorder
RS1439756712 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS1439772141 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS143977255 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS143977836 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1439783011 ABCA4 Health Risk Pathogenic —
RS1439786424 DNM1L Health Risk Pathogenic/Likely pathogenic —
RS143978652 MYH6 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1EE, Primary dilated cardiomyopathy
RS1439788842 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS143978938 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, FGFR2-related disorder
RS143979330 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS143979758 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS143979792 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS143981004 EP400 Health Risk Conflicting classifications of pathogenicity —
RS143981093 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS143981573 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS1439817346 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS143981992 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS143982014 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-related disorder
RS143983247 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, Glycogen storage disease IXc
RS143983421 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143984293 HMBS Health Risk Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1439849519 TUBGCP6 Health Risk Likely pathogenic —
RS143985153 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1439853340 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS143986011 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS143986510 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS143987049 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS1439877158 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1439878240 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS143988052 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS1439882146 ERCC6 Health Risk Likely pathogenic —
RS143990850 ZIC3 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS143990986 CD3G Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS1439911743 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS143991798 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS143991928 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS143992162 SLC10A2 Health Risk Conflicting classifications of pathogenicity SLC10A2-related disorder, SLC10A2-related disorder
RS143992505 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS1439930038 PCARE Health Risk Pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS143993346 OTOA Health Risk Conflicting classifications of pathogenicity —
RS1439933768 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS143994166 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS143994626 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1439947338 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis 6
RS143994870 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1439949443 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS143995220 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, Inborn genetic diseases
RS143995717 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1439967202 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS143997164 SERPING1 Health Risk Conflicting classifications of pathogenicity —
RS1439979978 KIZ Health Risk Pathogenic —
RS143998364 BRCA2 Health Risk Pathogenic —
RS143998546 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143998942 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1439991530 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS1439996385 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS143999854 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS143999963 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1439999698 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, GNE myopathy
RS144000161 COX10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS1440003996 GNAT1 Health Risk Pathogenic —
RS1440006845 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1440006888 GLI2 Health Risk Likely pathogenic —
RS1440010564 PRKN Health Risk Pathogenic/Likely pathogenic Autosomal recessive juvenile Parkinson disease 2, Ovarian neoplasm
RS144001072 TWNK Health Risk Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria
RS144001095 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Costello syndrome
RS144001451 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1440022090 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group P
RS144002969 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS144003099 CNTNAP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1440033157 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, COL4A3-related disorder
RS144003410 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Autism
RS1440037452 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS144004164 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS144004292 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, Inborn genetic diseases
RS1440055692 KCTD7 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS144007007 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS1440070681 COL6A2 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS144007074 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS144007962 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS1440081449 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS144008665 RBSN Health Risk Conflicting classifications of pathogenicity —
RS144009130 LAMA5 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, LAMA5-related disorder
RS1440093502 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS144009842 MYO1A Health Risk Conflicting classifications of pathogenicity —
RS144010362 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6
RS1440105492 LOXHD1 Health Risk Pathogenic —
RS1440105689 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS144010718 SLC30A10 Health Risk Conflicting classifications of pathogenicity —
RS144011305 UNC80 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144011428 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa
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