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
RS1202215410 STAC3 Health Risk Pathogenic Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
RS1202226733 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1202232628 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1202280089 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1202283239 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder
RS1202301143 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1202302799 POT1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1202306773 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS1202322408 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1202331107 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1202341886 CPLANE1 Health Risk Likely pathogenic Orofaciodigital syndrome type 6, Joubert syndrome 17
RS1202350917 CTC1 Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1202358073 CNTN2 Health Risk Likely pathogenic Epilepsy, familial adult myoclonic
RS1202365275 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1202370194 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1202371552 RAD21 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 4
RS1202384396 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1202400777 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1202417178 PFKM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VII
RS1202430946 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS1202432368 IBA57 Health Risk Likely pathogenic Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3
RS1202435147 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1202446895 DOCK11 Health Risk Likely pathogenic Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia, Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia
RS1202473484 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1202498329 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS12025066 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1202510810 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1202514159 MYRF Health Risk Likely pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS1202515342 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1202522544 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1202526326 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1202544126 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1202573136 USH2A Health Risk Pathogenic —
RS1202582363 SOS2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 9
RS1202592147 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1202610425 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1202610727 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1202650869 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1202663155 CASQ2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2
RS1202676769 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1202678414 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS1202682161 ATP8B1 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS1202682571 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1202682853 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1202694189 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS1202710670 ARID1B Health Risk Pathogenic —
RS1202720979 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1202763005 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1202764933 DNAAF4 Health Risk Pathogenic —
RS1202766392 ATP7B Health Risk Conflicting classifications of pathogenicity —
RS1202775818 KCNJ11 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, KCNJ11-related disorder
RS1202783767 TCTN3 Health Risk Pathogenic Joubert syndrome 18, Orofacial-digital syndrome IV
RS1202784860 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1202786652 AIFM1 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Bieganski type
RS1202793339 TP53 Health Risk Likely pathogenic Ovarian neoplasm, Rhabdomyosarcoma
RS1202802893 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 3
RS1202860455 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1202861028 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1202896735 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1202897114 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1202934929 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1202939879 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1202942323 KCNJ16 Health Risk Pathogenic Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
RS1202957297 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1202978138 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS1202989817 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1203006457 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1203009272 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
RS1203009966 VPS51 Health Risk Pathogenic Pontocerebellar hypoplasia, type 13
RS1203022386 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS1203037698 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1203046811 LOXHD1 Health Risk Pathogenic —
RS1203066173 RUNX2 Health Risk Pathogenic/Likely pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS1203069392 ZIC3 Health Risk Pathogenic Heterotaxy, visceral
RS1203093809 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1203095918 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1203102465 TRIP13 Health Risk Pathogenic Oocyte maturation defect 9, Oocyte maturation defect 9
RS1203103557 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella syndrome
RS1203106659 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae
RS1203128182 WNT10A Health Risk Pathogenic/Likely pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS1203128467 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1203128797 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1203130034 OTOG Health Risk Likely pathogenic —
RS1203137107 MAT1A Health Risk Pathogenic —
RS1203141216 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, Inborn genetic diseases
RS1203145822 LZTR1 Health Risk Conflicting classifications of pathogenicity LZTR1-related schwannomatosis, Cardiovascular phenotype
RS1203151992 PIEZO2 Health Risk Pathogenic Arthrogryposis, distal
RS1203170244 HIBCH Health Risk Pathogenic/Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS1203185416 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1203185481 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1203193062 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1203195727 CCN6 Health Risk Pathogenic —
RS1203221115 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1203256966 MSX2 Health Risk Likely pathogenic —
RS1203257517 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1203259286 SLC19A3 Health Risk Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1203260419 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1203273192 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1203276122 RNF168 Health Risk Likely pathogenic RIDDLE syndrome, RIDDLE syndrome
RS1203288518 COL18A1 Health Risk Pathogenic —
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