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
RS1266489288 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1266503246 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS1266507622 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS1266509754 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1266530895 LIPA Health Risk Pathogenic Wolman disease, Wolman disease
RS1266535163 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1266546987 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1266550019 GNAT2 Health Risk Pathogenic —
RS1266562776 SKIC3 Health Risk Pathogenic —
RS1266617320 TRIOBP Health Risk Pathogenic —
RS1266666247 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS1266675910 SLF2 Health Risk Pathogenic Atelis syndrome 1, Atelis syndrome 1
RS1266678482 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS1266681695 MOCS1 Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1266710900 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, DIS3L2-related disorder
RS1266718915 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1266725037 TUBGCP6 Health Risk Conflicting classifications of pathogenicity —
RS1266747910 CEP63 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1266754583 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS1266760446 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4A, Lamellar ichthyosis
RS1266767011 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1266786790 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1266788575 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1266814704 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1266819147 WDR72 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1266824761 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1266831898 HSD3B2 Health Risk Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS1266845318 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS1266848624 NLRP2 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 18, Oocyte/zygote/embryo maturation arrest 18
RS1266861758 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1266872442 AR Health Risk Likely pathogenic —
RS1266876998 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS1266877537 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1266893039 COL7A1 Health Risk Pathogenic —
RS1266895232 ACE Health Risk Pathogenic —
RS1266899670 UBE3B Health Risk Likely pathogenic —
RS1266902064 PKHD1 Health Risk Pathogenic —
RS1266904735 SLC33A1 Health Risk Likely pathogenic Failure to thrive, Global developmental delay
RS1266914122 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS1266915084 ERCC2 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1266940329 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1266948051 CHRND Health Risk Pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1266953756 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1266964950 MANBA Health Risk Pathogenic/Likely pathogenic MANBA-related disorder, Beta-D-mannosidosis
RS1266979535 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1266988083 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1266991544 AARS2 Health Risk Likely pathogenic Leukoencephalopathy, progressive
RS1267003109 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1267004913 MAGEL2 Health Risk Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS1267028551 PRDM5 Health Risk Likely pathogenic —
RS1267030887 LITAF Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases
RS1267047192 TP53 Health Risk Pathogenic Ovarian neoplasm, Li-Fraumeni syndrome
RS1267050481 ABCA12 Health Risk Likely pathogenic —
RS1267106442 DTYMK Health Risk Pathogenic Neurodegeneration, childhood-onset
RS1267112374 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1267133428 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1267142388 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1267150542 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1267164875 VARS2 Health Risk Pathogenic —
RS1267168609 MPDZ Health Risk Pathogenic Hydrocephalus, nonsyndromic
RS1267180414 EFEMP2 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS1267207491 GRIA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1267208797 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS1267230279 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS1267244210 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1267263468 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1267270290 NDUFS8 Health Risk Likely pathogenic —
RS1267271862 WNT1 Health Risk Pathogenic —
RS1267284740 TET2 Health Risk Pathogenic/Likely pathogenic —
RS1267288663 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1267304310 STAG1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 47
RS1267309141 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1267333057 ANAPC1 Health Risk Pathogenic Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1
RS1267339772 CAMK2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1267356970 ASAH1 Health Risk Conflicting classifications of pathogenicity —
RS1267369024 PRDM5 Health Risk Pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS1267383375 EMC1 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Cerebellar atrophy
RS1267384637 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1267396058 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS1267399794 CCDC88C Health Risk Pathogenic —
RS12674022 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS1267410871 NSD2 Health Risk Pathogenic —
RS1267428175 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group P, Fanconi anemia
RS1267435790 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1267443415 SORD Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS1267445233 KIF22 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia with multiple dislocations, Spondyloepimetaphyseal dysplasia with multiple dislocations
RS1267445922 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS1267457680 HTRA1 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1267484829 TET2 Health Risk Likely pathogenic —
RS1267495194 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1267512916 HOGA1 Health Risk Pathogenic —
RS1267515400 SLC12A3 Health Risk Pathogenic —
RS1267519974 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS1267521228 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1267528399 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1267542305 IFITM5 Health Risk Conflicting classifications of pathogenicity —
RS1267554976 NDUFS8 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS1267571380 DLD Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1267585230 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1267586059 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
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