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
RS201561974 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS201562272 A2ML1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, A2ML1-related disorder
RS201562329 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS201562505 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS201562855 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS201563456 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Distal spinal muscular atrophy, Autosomal recessive distal spinal muscular atrophy 1
RS201563567 MATN3 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
RS201563576 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS201563661 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS201564009 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS201564143 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS201564256 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS201564869 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Neuronopathy
RS201564919 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS201564925 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201565524 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS201565932 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201566715 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS201566733 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS201566815 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS201566948 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS201567345 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS201567366 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS201567623 SFTPC Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS201567815 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201567818 BGN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201568145 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS201568204 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Autoinflammatory syndrome
RS201568350 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS201568579 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, ABCD1-related disorder
RS201568626 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS201568629 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201569048 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS201569135 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, CSF1R-related disorder
RS201569239 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Hereditary spastic paraplegia
RS201569578 ATP2C2 Health Risk Conflicting classifications of pathogenicity —
RS201569877 CEP152 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201570489 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Inborn genetic diseases
RS201570536 RERE Health Risk Conflicting classifications of pathogenicity RERE-related disorder, RERE-related disorder
RS201570714 ADAMTS18 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS201571160 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS201571450 SLC10A2 Health Risk Conflicting classifications of pathogenicity —
RS201571580 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS201572020 MRE11 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS201572198 MYO3A Health Risk Conflicting classifications of pathogenicity —
RS201572301 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS201572629 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201572666 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS201572795 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL9A3-related disorder
RS201572812 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS201573066 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS201573409 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS201573515 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Developmental and epileptic encephalopathy 99
RS201573606 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS201573889 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201574031 FGFR1 Health Risk Conflicting classifications of pathogenicity Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS201574204 ANO6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201574228 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Inborn genetic diseases
RS201574278 MKS1 Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Meckel-Gruber syndrome
RS201574478 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201574539 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201575058 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201575114 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS201575136 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS201575292 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS201575500 DNM2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS201575829 ALOX12B Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2, Lamellar ichthyosis
RS201576815 GRM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201576854 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS201576880 LOXHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LOXHD1-related disorder
RS201577008 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS201577113 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS201577437 CEP152 Health Risk Pathogenic —
RS201577653 VPS13C Health Risk Conflicting classifications of pathogenicity —
RS201577762 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, See cases
RS201577842 SCN9A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 7
RS201577994 TTI2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201578201 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS201578578 WNT10A Health Risk Conflicting classifications of pathogenicity Odonto-onycho-dermal dysplasia, Tooth agenesis
RS201578674 PHYH Health Risk Pathogenic REFSUM DISEASE, ADULT
RS201579427 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS201579557 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS201579632 DNMT3B Health Risk Pathogenic/Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS201580118 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, juvenile form
RS201580443 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS201580493 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS201580764 CA4 Health Risk Conflicting classifications of pathogenicity —
RS201581270 SCYL1 Health Risk Pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS201581470 RSPH10B Health Risk Conflicting classifications of pathogenicity —
RS201581582 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS201581867 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS201581947 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201582108 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS201582196 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS201582780 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS201582948 NAGA Health Risk Conflicting classifications of pathogenicity Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2
RS201583296 SRCAP Health Risk Conflicting classifications of pathogenicity Developmental delay, hypotonia
RS201583620 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201583659 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS201583978 UBIAD1 Health Risk Conflicting classifications of pathogenicity Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
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