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
RS200126922 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS200127012 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS200127070 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS200127189 PXDN Health Risk Conflicting classifications of pathogenicity Anterior segment dysgenesis 7, Inborn genetic diseases
RS200127255 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS200127338 KIAA0586 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS200127425 LIPC Health Risk Conflicting classifications of pathogenicity Hyperlipidemia due to hepatic triglyceride lipase deficiency, Hyperlipidemia due to hepatic triglyceride lipase deficiency
RS200127630 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A
RS200128097 NDUFS1 Health Risk Conflicting classifications of pathogenicity —
RS200128314 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200128474 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, SEPN1-related disorder
RS200128670 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex
RS200129338 TUBGCP2 Health Risk Conflicting classifications of pathogenicity Pachygyria, microcephaly
RS200129367 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS200129431 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS200129563 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
RS200129808 FMN1 Health Risk Conflicting classifications of pathogenicity —
RS200130100 ILDR1 Health Risk Conflicting classifications of pathogenicity —
RS200130204 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS200130356 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS200130395 UBE2T Health Risk Conflicting classifications of pathogenicity —
RS200130423 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200130719 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS200130790 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS200130803 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS200130856 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS200131009 ROBO2 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 2, ROBO2-related disorder
RS200131193 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS200131215 CFP Health Risk Conflicting classifications of pathogenicity Properdin deficiency, X-linked
RS200131312 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS200131423 MPDZ Health Risk Pathogenic —
RS200131516 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS200132007 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS200132079 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS200132226 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200132397 TRANK1 Health Risk Conflicting classifications of pathogenicity —
RS200132460 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS200132482 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS200132496 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS200132571 TSFM Health Risk Conflicting classifications of pathogenicity Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Encephalomyopathy with respiratory failure and lactic acidosis
RS200132965 MUTYH;TOE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TOE1-related disorder
RS200133181 VWA3B Health Risk Conflicting classifications of pathogenicity —
RS200133602 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Infantile hypophosphatasia
RS200133722 WDR19 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5
RS200133928 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS200133966 ELN Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 1
RS200133991 C19orf12 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Neurodegeneration
RS200134130 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, ITGB2-related disorder
RS200134167 DUOX2 Health Risk Conflicting classifications of pathogenicity DUOX2-related disorder, DUOX2-related disorder
RS2001345 GH1 Health Risk Conflicting classifications of pathogenicity —
RS200134546 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS200135015 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS200135486 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS200135698 CFHR4 Health Risk Conflicting classifications of pathogenicity —
RS200135768 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, WFS1-Related Spectrum Disorders
RS200135955 PRICKLE3 Health Risk Conflicting classifications of pathogenicity —
RS200136665 HPS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200136680 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS200137051 SGCA Health Risk Conflicting classifications of pathogenicity Sarcoglycanopathy, Hypertrophic cardiomyopathy
RS200137091 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS200137127 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200137189 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS200137670 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS200137805 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS200137965 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS200137991 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS200137992 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS200138144 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS200138205 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS200138397 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS200138483 COL13A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200138601 TSHR Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Hypothyroidism due to TSH receptor mutations
RS200138628 PISD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200138839 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS200138872 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Van Maldergem syndrome 2
RS200139223 EIF2B1 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS200139797 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, EARS2-related disorder
RS200140363 WDR35 Health Risk Likely pathogenic Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2
RS200140892 RP1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200140994 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS200141048 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS200141081 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS200141437 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS200141555 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 42, early-onset
RS200142054 IRS1 Health Risk Conflicting classifications of pathogenicity IRS1-related disorder, IRS1-related disorder
RS200142785 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS200142963 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS200143024 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200143181 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Late-onset retinal degeneration, Isolated microphthalmia 5
RS200143418 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS200143447 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS200143450 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS200143657 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1AA
RS200143780 EIF2B5 Health Risk Pathogenic/Likely pathogenic Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5
RS200143796 DSG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200143824 PLEKHG2 Health Risk Conflicting classifications of pathogenicity PLEKHG2-related disorder, PLEKHG2-related disorder
RS200144345 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200144674 NOL3 Health Risk Conflicting classifications of pathogenicity —
RS200144727 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related Meckel-like syndrome
RS200144770 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
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