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
RS772430226 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS772430523 OTOG Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B
RS772431718 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS772432010 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS772432152 ERCC4 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group F
RS772432408 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS772432672 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS772433295 SERPINH1 Health Risk Conflicting classifications of pathogenicity —
RS772433974 KMT2C Health Risk Conflicting classifications of pathogenicity See cases, KMT2C-related disorder
RS772434460 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS772435667 NFIX Health Risk Pathogenic —
RS772436044 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS772437766 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Joubert syndrome
RS772438632 MED12L Health Risk Conflicting classifications of pathogenicity Nizon-Isidor syndrome, Inborn genetic diseases
RS772438764 OTOA Health Risk Conflicting classifications of pathogenicity —
RS772439098 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS772439717 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS772441504 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS772441887 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS772441925 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS772442590 INF2 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Focal segmental glomerulosclerosis 5
RS772443183 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS772443941 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS772444228 GUCY2D Health Risk Likely pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS772444483 C5 Health Risk Conflicting classifications of pathogenicity C5-related disorder, C5-related disorder
RS772444561 FLNB Health Risk Likely pathogenic —
RS772445337 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS772446354 CWF19L1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS772446794 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS772447674 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS772448418 PHOX2B Health Risk Pathogenic/Likely pathogenic Congenital central hypoventilation, Central hypoventilation syndrome
RS772448543 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS772448753 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS772448912 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Inborn genetic diseases
RS772449872 CD27 Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 2, Inborn genetic diseases
RS772450464 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS772450541 ELP2 Health Risk Pathogenic Intellectual disability, autosomal recessive 58
RS772450693 SDHC Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS772451147 LARP7 Health Risk Pathogenic/Likely pathogenic —
RS772452257 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS772453135 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Primary ciliary dyskinesia
RS772453351 DNAJC5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS772453925 HBA2 Health Risk Conflicting classifications of pathogenicity HBA2-related disorder, HBA2-related disorder
RS772455600 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS772456092 CYP11B2 Health Risk Likely pathogenic CYP11B2-related disorder, CYP11B2-related disorder
RS772456119 DMXL2 Health Risk Pathogenic —
RS772457252 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS772457877 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS772463000 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS772463630 LAMB1 Health Risk Pathogenic —
RS772464386 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS772466142 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS772466166 SMN1 Health Risk Conflicting classifications of pathogenicity Spinal muscular atrophy, type IV
RS772466277 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS772468452 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS772468675 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS772468981 SLC25A12 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 39
RS772470710 NSD2 Health Risk Conflicting classifications of pathogenicity Lymphoma, Neurodevelopmental delay
RS772471533 ITGB2 Health Risk Pathogenic/Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS772471723 RIMS1 Health Risk Conflicting classifications of pathogenicity —
RS772472098 MCM9 Health Risk Likely pathogenic 46, XX ovarian dysgenesis-short stature syndrome
RS772472509 NBAS Health Risk Pathogenic —
RS772473652 PKLR Health Risk Likely pathogenic PKLR-related disorder, PKLR-related disorder
RS772473982 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS772474835 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS772475005 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS772475006 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS772475341 BLOC1S6 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS772475828 KIF1C Health Risk Pathogenic/Likely pathogenic Spastic ataxia 2, Spastic ataxia 2
RS772475990 CAV3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS772476137 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS772477251 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS772477788 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS772477865 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS772479207 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS772481080 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS772481807 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS772482624 ALAS2 Health Risk Conflicting classifications of pathogenicity —
RS772482784 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS772483312 TECPR2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS772484566 HOXB13 Health Risk Conflicting classifications of pathogenicity Prostate cancer, hereditary
RS772484830 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS772484960 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS772485524 MYO3A Health Risk Pathogenic —
RS772486214 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS772486760 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS772486886 CPAMD8 Health Risk Pathogenic —
RS772487425 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS772487756 CUBN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Proteinuria
RS772488436 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS772488845 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS772489337 DARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS772489659 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS772489808 ERCC8;NDUFAF2 Health Risk Likely pathogenic Cockayne syndrome type 1, Mitochondrial complex I deficiency
RS772490323 AR Health Risk Pathogenic Prostate cancer, Prostate cancer
RS772490357 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS772490613 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS772490888 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS772491283 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS772492143 ALG8 Health Risk Pathogenic ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
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