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
RS200182705 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS200182836 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Inborn genetic diseases
RS200182869 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200183606 PHRF1 Health Risk Conflicting classifications of pathogenicity —
RS200183918 NIPAL4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 6, Sarcoma
RS200184366 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS200184619 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS200184764 BUB1 Health Risk Conflicting classifications of pathogenicity —
RS200184769 AGTR1 Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Essential hypertension
RS200185068 MKS1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS200185407 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS200185441 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS200185554 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS200185692 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS200185747 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCB-related disorder
RS200185988 C1R Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, periodontal type 1
RS200186078 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS200186130 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS200186406 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Inborn genetic diseases
RS200186819 KRAS Health Risk Conflicting classifications of pathogenicity Carcinoma of pancreas, Carcinoma of pancreas
RS200187117 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS200187346 PTPN13 Health Risk Conflicting classifications of pathogenicity PTPN13-related disorder, PTPN13-related disorder
RS200187663 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, See cases
RS200187681 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS200187682 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
RS200187887 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS200188234 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS200188353 PMPCB Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6
RS200188483 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS200188616 AARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200188649 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
RS200188690 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS200189161 DIAPH3 Health Risk Conflicting classifications of pathogenicity —
RS200189331 CCDC8 Health Risk Conflicting classifications of pathogenicity 3M syndrome 3, CCDC8-related disorder
RS200189529 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS200189652 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, DCAF17-related disorder
RS200189899 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200190212 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS200190291 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Type IV short rib polydactyly syndrome
RS200190537 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS200190780 CPT1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 73, CPT1C-related disorder
RS200191107 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS200191497 EFHC1 Health Risk Conflicting classifications of pathogenicity Myoclonic epilepsy, juvenile
RS200191563 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Inborn genetic diseases
RS200191611 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS200191748 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200191762 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS200191870 DNM2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS200191903 THPO Health Risk Conflicting classifications of pathogenicity Thrombocythemia 1, Thrombocythemia 1
RS200191925 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200192011 WFS1 Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Inborn genetic diseases
RS200192089 PPOX Health Risk Conflicting classifications of pathogenicity Variegate porphyria, Variegate porphyria
RS200192119 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Inborn genetic diseases
RS200192277 ROR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brachydactyly type B1
RS200192746 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS200192750 FAT1 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, Inborn genetic diseases
RS200193877 TTN Health Risk Conflicting classifications of pathogenicity Abnormality of neuronal migration, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200193956 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS200193957 COL7A1 Health Risk Conflicting classifications of pathogenicity Generalized dominant dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica
RS200194007 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS200194530 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS200194581 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
RS200194908 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS200195063 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS200196034 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS200196183 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Liang-Wang syndrome
RS200196481 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS200196781 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS200197273 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Retinal dystrophy
RS200197329 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Orthostatic hypotension 1
RS200197424 TBX19 Health Risk Pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS200197527 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS200197609 ROBO3 Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS200197749 EED Health Risk Conflicting classifications of pathogenicity Cohen-Gibson syndrome, Inborn genetic diseases
RS200198618 BMPR1B Health Risk Conflicting classifications of pathogenicity Brachydactyly, Acromesomelic dysplasia 3
RS200198778 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS200199102 TRPV4 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia, Kozlowski type
RS200199642 TET3 Health Risk Conflicting classifications of pathogenicity —
RS200199681 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, NDUFAF5-related disorder
RS200199765 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS200199871 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200200279 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS200200671 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS200200711 STAT5B Health Risk Conflicting classifications of pathogenicity Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS200200745 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS200200869 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS200201069 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, ANKS6-related disorder
RS200201181 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS200201418 MSRB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 74
RS200201449 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200201634 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS200201741 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS200201811 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS200202461 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS200202579 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200202628 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS200202756 AP1G2 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS200202916 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, Inborn genetic diseases
RS200202953 ALS2 Health Risk Conflicting classifications of pathogenicity ALS2-related disorder, Amyotrophic lateral sclerosis type 2
RS200203171 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, 8 conditions
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