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
RS1286492027 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1286499329 FERMT3 Health Risk Pathogenic Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS1286510393 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1286554934 CDH3 Health Risk Likely pathogenic —
RS1286585831 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1286600850 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1286603999 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1286607815 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1286616401 TMPRSS3 Health Risk Pathogenic TMPRSS3-related disorder, TMPRSS3-related disorder
RS1286624133 CLCNKB Health Risk Pathogenic —
RS1286642936 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS1286660951 LCA5 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis
RS1286673507 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS1286683365 SLC4A11 Health Risk Pathogenic/Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
RS1286686353 INTS1 Health Risk Pathogenic Neurodevelopmental disorder with cataracts, poor growth
RS1286693766 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1286699794 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1286714220 VPS13A Health Risk Pathogenic —
RS1286714661 SDCCAG8 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS1286718786 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS1286723655 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1286740150 LTBP4 Health Risk Pathogenic LTBP4-related disorder, LTBP4-related disorder
RS1286743873 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1286744339 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1286748036 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Dent disease type 2
RS1286765014 ARL2BP Health Risk Pathogenic —
RS1286786026 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1286797317 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS1286804191 GCK Health Risk Pathogenic Monogenic diabetes, GCK-related disorder
RS1286812517 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1286822636 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1286857064 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1286871460 ZNF469 Health Risk Pathogenic —
RS1286882965 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1286892626 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1286893141 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1286895614 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS1286912998 STRC Health Risk Pathogenic —
RS1286913162 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1286915234 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1286915599 ROBO3 Health Risk Likely pathogenic Gaze palsy, familial horizontal
RS1286919081 TULP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 15, Retinitis pigmentosa
RS1286928722 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS1286940284 ADGRV1 Health Risk Pathogenic —
RS1286976213 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS1287001939 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1287011273 F9 Health Risk Likely pathogenic F9-related disorder, F9-related disorder
RS1287017958 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1287021691 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1287040507 COL4A4 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS1287053724 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1287068204 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1287072443 GZF1 Health Risk Pathogenic —
RS1287079817 CACNA1S Health Risk Pathogenic/Likely pathogenic Malignant hyperthermia, susceptibility to
RS1287088175 VWF Health Risk Conflicting classifications of pathogenicity —
RS1287098925 ALG3 Health Risk Pathogenic/Likely pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS1287109722 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1287121256 CAMK2A Health Risk Pathogenic Intellectual disability, autosomal dominant 53
RS1287122500 CLRN1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 61, Usher syndrome type 3A
RS1287123881 ELP1 Health Risk Likely pathogenic —
RS1287127447 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1287134931 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS1287138440 RFX6 Health Risk Pathogenic —
RS1287146448 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1287150773 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1287232143 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS1287237832 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS1287249801 SLC25A22 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1287269389 SUCLG1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS1287270284 LOXHD1 Health Risk Likely pathogenic —
RS1287286877 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS1287289593 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1287294691 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1287308680 IARS2 Health Risk Likely pathogenic —
RS1287311961 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS1287332192 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1287337540 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1287351569 FRAS1 Health Risk Pathogenic —
RS1287370462 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Transitory neonatal diabetes mellitus
RS1287370710 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1287376106 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1287380656 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1287388302 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1287389353 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1287433846 ASXL2 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1287458024 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS1287464120 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS1287488544 CCDC88C Health Risk Pathogenic —
RS1287504676 MTFMT Health Risk Pathogenic —
RS1287506606 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS1287511385 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS1287521576 AIMP1 Health Risk Likely pathogenic AIMP1-related disorder, AIMP1-related disorder
RS1287531190 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS1287533399 CPT2 Health Risk Pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1287548904 OPA1 Health Risk Likely pathogenic Abortive cerebellar ataxia, Abortive cerebellar ataxia
RS1287554667 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1287628446 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS1287635563 DOCK8 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1287639468 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS1287652457 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism, Oculocutaneous albinism
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