SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS866686536 DRD4 Health Risk Conflicting classifications of pathogenicity Hereditary attention deficit-hyperactivity disorder, Hereditary attention deficit-hyperactivity disorder
RS866688232 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS866689896 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS866703165 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS866704383 ERCC2 Health Risk Pathogenic/Likely pathogenic Malignant tumor of urinary bladder, Cerebrooculofacioskeletal syndrome 2
RS866706988 SOX9 Health Risk Pathogenic/Likely pathogenic Camptomelic dysplasia, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
RS866712684 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS866717445 FLNB Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS866727908 SLC4A1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 4, Autosomal dominant distal renal tubular acidosis
RS866728229 MMUT Health Risk Likely pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS866731784 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS866740147 NIPBL Health Risk Pathogenic De Lange syndrome, De Lange syndrome
RS866754647 POU3F4 Health Risk Likely pathogenic —
RS866756635 FMO3 Health Risk Pathogenic/Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS866763453 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS866769733 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS866769874 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS866771343 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, FAS-related disorder
RS866771359 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS866773167 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS866774930 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS866775781 TP53 Health Risk Pathogenic/Likely pathogenic Squamous cell carcinoma of the head and neck, Li-Fraumeni syndrome
RS866783525 COL11A1 Health Risk Pathogenic Stickler syndrome type 2, Stickler syndrome type 2
RS866785621 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, COL1A1-related disorder
RS866789963 LRP6 Health Risk Likely pathogenic Tooth agenesis, Tooth agenesis
RS866792483 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 1
RS866796047 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS866802950 PPP1R21 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, facial dysmorphism
RS866803539 SLC35A3 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS866804139 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS866809120 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS866812216 A2ML1 Health Risk Conflicting classifications of pathogenicity Otitis media, susceptibility to
RS866814797 EIF2AK3 Health Risk Pathogenic —
RS866815144 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS866815665 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, FOXG1 disorder
RS866818044 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS866821968 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS866822473 CRB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 8
RS866823474 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS866836744 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS866837129 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS866837583 XDH Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS866838115 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS866839234 ABCB11 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS866839255 CARMIL2 Health Risk Pathogenic —
RS866839831 RLIM Health Risk Likely pathogenic See cases, See cases
RS866842287 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, ZNF462-related disorder
RS866845681 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS866846166 EFTUD2 Health Risk Likely pathogenic EFTUD2-related disorder, EFTUD2-related disorder
RS866852986 ABCC6 Health Risk Likely pathogenic —
RS866856763 MYH14 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 4A, Ovarian serous cystadenocarcinoma
RS866863840 PROM1 Health Risk Likely pathogenic —
RS866873846 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS866874156 SNIP1 Health Risk Conflicting classifications of pathogenicity —
RS866878858 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS866880466 C8B Health Risk Pathogenic —
RS866881260 KCNJ5 Health Risk Conflicting classifications of pathogenicity Familial hyperaldosteronism type III, Familial hyperaldosteronism type III
RS866887062 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS866892723 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS866895236 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS866898562 POGZ Health Risk Conflicting classifications of pathogenicity Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS866898746 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS866898949 SPOP Health Risk Conflicting classifications of pathogenicity Prostate cancer, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
RS866899109 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS866904446 PFKM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VII
RS866917013 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS866919041 HS6ST2 Health Risk Pathogenic Paganini-Miozzo syndrome, Paganini-Miozzo syndrome
RS866921933 CPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital hyperammonemia
RS866922524 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS866936431 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS866938979 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS866941536 ODAPH Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A4, Amelogenesis imperfecta hypomaturation type 2A4
RS866943725 AFG2A Health Risk Likely pathogenic —
RS866945292 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive spinocerebellar ataxia 14
RS866946278 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS866948739 RINT1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS866949431 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS866959693 HMOX1 Health Risk Likely pathogenic —
RS866964055 PNPLA6 Health Risk Likely pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS866964603 POC1A Health Risk Likely pathogenic —
RS866966373 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS866966651 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS866970619 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS866975469 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS866978361 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS866981753 AGO2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS866982675 IQCB1 Health Risk Pathogenic Renal dysplasia and retinal aplasia, Nephronophthisis
RS866982998 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS866984082 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS866987981 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS866991159 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS866993296 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS866994863 IGFBP7 Health Risk Pathogenic/Likely pathogenic Retinal arterial macroaneurysm with supravascular pulmonic stenosis, Familial retinal arterial macroaneurysm
RS866997710 ANKRD1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS866997713 EYS Health Risk Pathogenic —
RS867000687 UNC80 Health Risk Likely pathogenic —
RS867010473 CAMK2D Health Risk Pathogenic See cases, See cases
RS867010959 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS867012156 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS867015582 CEP63 Health Risk Likely pathogenic —
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