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
RS139244400 TIE1 Health Risk Pathogenic Lymphatic malformation 11, Lymphatic malformation 11
RS139244736 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS1392447890 LAMC3 Health Risk Pathogenic —
RS139245086 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1392467818 SYNE2 Health Risk Conflicting classifications of pathogenicity —
RS1392470365 RPS7 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
RS139247073 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS139249329 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1392500142 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS139250920 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS139251285 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS1392513631 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS139251660 RBFOX1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS139251833 PDE6C Health Risk Likely pathogenic —
RS1392520466 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS139252433 PUS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139252608 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KIDINS220-related disorder
RS139252668 FERMT1 Health Risk Pathogenic —
RS1392533284 EPAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Erythrocytosis
RS139253468 WWOX Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS1392541002 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS139254288 ATAD3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Harel-Yoon syndrome
RS139254363 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, MYOT-related disorder
RS139254423 CFH Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical
RS139254595 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS1392550887 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS139255481 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1392559810 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS139256741 PIGQ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139257219 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1392582030 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS139258331 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lissencephaly 9 with complex brainstem malformation
RS139258361 EPS8 Health Risk Conflicting classifications of pathogenicity Deafness, Inborn genetic diseases
RS139258703 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1392596033 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1392596720 MTX2 Health Risk Pathogenic Progeroid mandibuloacral dysplasia, Mandibuloacral dysplasia progeroid syndrome
RS139259793 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS139259804 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS139260335 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, COL6A3-related disorder
RS1392604380 CIROP Health Risk Pathogenic Heterotaxy, visceral
RS1392614291 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS139261571 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS139262486 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS139263114 ASB10 Health Risk Conflicting classifications of pathogenicity —
RS1392631759 MED17 Health Risk Pathogenic —
RS139263189 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Inborn genetic diseases
RS139263450 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1392635342 CC2D2A Health Risk Likely pathogenic Joubert syndrome 9, Joubert syndrome 9
RS139263536 IVNS1ABP Health Risk Conflicting classifications of pathogenicity —
RS139263608 F12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1392638187 SLC18A2 Health Risk Likely pathogenic Brain dopamine-serotonin vesicular transport disease, Brain dopamine-serotonin vesicular transport disease
RS1392647178 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS139264724 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS139264769 INS Health Risk Conflicting classifications of pathogenicity Type 1 diabetes mellitus 2, Hyperproinsulinemia
RS139264859 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS139265251 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS139265462 RNF213 Health Risk Conflicting classifications of pathogenicity Moyamoya disease 2, Moyamoya disease 2
RS139265757 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1392661120 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS139266382 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 28
RS139266578 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS139266750 IL2RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS139267208 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
RS139267495 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Inborn genetic diseases
RS139268254 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS139270058 SLC9A3 Health Risk Conflicting classifications of pathogenicity —
RS1392702424 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS139270936 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS1392709495 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS139271648 PARP10 Health Risk Conflicting classifications of pathogenicity —
RS139272198 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Inborn genetic diseases
RS139272614 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, GNPAT-related disorder
RS139272628 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS139273379 TNS2 Health Risk Conflicting classifications of pathogenicity —
RS139274834 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1392755260 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS139277089 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1392778905 APC Health Risk Pathogenic Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
RS139278612 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1392791154 ABCC2 Health Risk Likely pathogenic —
RS139279260 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS1392795567 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
RS139281553 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Hemochromatosis type 2A
RS139281637 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS139281846 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, MAN2B1-related disorder
RS139282177 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS139282720 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype
RS139283183 UQCRB Health Risk Conflicting classifications of pathogenicity UQCRB-related disorder, Mitochondrial complex III deficiency nuclear type 3
RS1392832988 LOC126806428;TTN Health Risk Pathogenic TTN-related disorder, TTN-related disorder
RS1392844393 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS139285603 CAST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139286030 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1392860800 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Lung cancer
RS139286118 SNRNP200 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1392865152 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS139286519 EXOSC2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
RS139286618 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS139286639 KATNIP Health Risk Conflicting classifications of pathogenicity —
RS1392868365 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS139287033 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
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