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
RS148018042 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1480182464 PEX19 Health Risk Pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS148018494 ELOVL4 Health Risk Conflicting classifications of pathogenicity Stargardt disease 3, Spinocerebellar ataxia type 34
RS148019277 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS148019349 PCK2 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
RS148019592 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS148019836 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1480207376 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS148020994 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, Uterine corpus endometrial carcinoma
RS148021416 FERMT3 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 3, FERMT3-related disorder
RS1480221716 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS148023511 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Inborn genetic diseases
RS1480235826 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS148023627 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS148024054 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS148024280 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1480243085 USH1C Health Risk Pathogenic Usher syndrome type 1C, Usher syndrome type 1
RS148026506 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS148026749 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1480267715 SDHB Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS148027842 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1D
RS1480279583 AFG2B Health Risk Likely pathogenic Neurodevelopmental disorder with hearing loss and spasticity, Neurodevelopmental disorder with hearing loss and spasticity
RS148028364 SCN4A Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 2
RS148028521 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS148028681 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS148028719 GEN1 Health Risk Conflicting classifications of pathogenicity —
RS148029276 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1480307304 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS148030756 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases
RS148030949 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, DYNC1H1-related disorder
RS148031211 DRAM2 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 21, Retinal dystrophy
RS148031263 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, KCNV2-related disorder
RS148031701 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS148031742 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS148032002 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS1480320128 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS148032587 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, Inborn genetic diseases
RS148033080 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS148033154 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Childhood onset hearing loss
RS148033381 KCNC3 Health Risk Conflicting classifications of pathogenicity —
RS1480350743 FANCE Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS148035648 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, CPT2-related disorder
RS148036363 TOR1A Health Risk Conflicting classifications of pathogenicity Early-onset generalized limb-onset dystonia, Dystonic disorder
RS1480368460 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS148038173 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS148038440 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS148038464 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS148038901 TRPV3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1480390443 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1480399395 ITGB4 Health Risk Pathogenic —
RS148040399 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1480404745 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS148040591 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS148040937 NXF5 Health Risk Conflicting classifications of pathogenicity —
RS1480410450 WDR62 Health Risk Pathogenic —
RS148041136 ERCC6L2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148041292 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS148041351 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases
RS148041814 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS148042715 OTOF Health Risk Conflicting classifications of pathogenicity —
RS148043302 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Polydactyly
RS1480433270 ERCC6L2 Health Risk Likely pathogenic ERCC6L2-related disorder, ERCC6L2-related disorder
RS148043654 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1480437471 DMD Health Risk Pathogenic —
RS148044176 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS1480442865 GREB1L Health Risk Likely pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS148044781 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS148045000 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Ataxia-hypogonadism-choroidal dystrophy syndrome
RS148045152 PPOX Health Risk Conflicting classifications of pathogenicity Variegate porphyria, Variegate porphyria
RS148045813 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS148046286 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1480466529 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS148046938 NOTCH3 Health Risk Conflicting classifications of pathogenicity NOTCH3-related disorder, NOTCH3-related disorder
RS148047706 OPA1 Health Risk Conflicting classifications of pathogenicity OPA1-related disorder, OPA1-related disorder
RS148048398 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS148048579 LAS1L Health Risk Conflicting classifications of pathogenicity Wilson-Turner syndrome, Wilson-Turner syndrome
RS148049120 GRHPR Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
RS148050153 PRKRA Health Risk Conflicting classifications of pathogenicity Dystonia 16, Inborn genetic diseases
RS1480504433 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS148050566 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SH3PXD2B-related disorder
RS148051111 CD36 Health Risk Likely pathogenic Coronary heart disease, susceptibility to
RS148051351 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, ROGDI-related disorder
RS148052192 ABCB4 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS1480522268 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1480527153 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1480528329 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS148052962 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS148053048 CTDP1 Health Risk Conflicting classifications of pathogenicity —
RS148053059 CHST14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type
RS148054042 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYH14-related disorder
RS148054271 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS148054613 P2RX2 Health Risk Conflicting classifications of pathogenicity —
RS148054811 CA2 Health Risk Conflicting classifications of pathogenicity Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
RS148054819 CRPPA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1480554912 UPF3B Health Risk Likely pathogenic Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS148055736 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1480562957 COL13A1 Health Risk Likely pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS148056371 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, IMPG2-related disorder
RS148056866 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart
RS1480568833 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
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