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
RS988245745 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS988250515 COX15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cardioencephalomyopathy
RS988251457 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, CREBBP-related disorder
RS988285170 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS988368046 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS988395114 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS988396505 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Inborn genetic diseases
RS988408197 KIZ Health Risk Pathogenic —
RS988423880 PMS2 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Hereditary cancer-predisposing syndrome
RS988434253 AP5Z1 Health Risk Pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS988439345 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Hematuria
RS988442865 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia
RS988444921 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS988504831 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS988534225 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS988540767 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS9885480 NDUFAF2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS988568801 ASXL1 Health Risk Conflicting classifications of pathogenicity Bohring-Opitz syndrome, Inborn genetic diseases
RS988592123 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS988596344 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS988670906 KDM6B Health Risk Likely pathogenic KDM6B-related disorder, KDM6B-related disorder
RS988686236 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS988689175 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS988693758 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS988699004 GRM1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 13, Autosomal recessive spinocerebellar ataxia 13
RS988712826 SLC7A9 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS988715134 CYP24A1 Health Risk Pathogenic Hypercalcemia, infantile
RS988720358 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS988722926 ODAD2 Health Risk Likely pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS988752772 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS988770583 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS988794959 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS988823074 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS988844595 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS988893052 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS988906237 B3GALT6 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylodysplastic type
RS988908130 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS988918025 TTN Health Risk Conflicting classifications of pathogenicity —
RS988964363 RRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Noonan syndrome
RS988993094 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS989023092 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS989023195 WDFY3 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 1
RS989031241 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Cutis laxa
RS989080548 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS989113962 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS989125087 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS989155710 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS989159105 DSG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS989161115 FREM2 Health Risk Likely pathogenic —
RS989180511 NDUFS4 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS989191437 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS989210294 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Factor I deficiency
RS989235687 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS989268235 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS989271195 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS989299922 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS989318548 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS989350448 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS989355152 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS989357227 TFG Health Risk Pathogenic Hereditary motor and sensory neuropathy, Okinawa type
RS989411551 UBE3B Health Risk Likely pathogenic Oculocerebrofacial syndrome, Kaufman type
RS989413835 COL9A3 Health Risk Pathogenic Stickler syndrome, type 6
RS989487316 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS989489575 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS989510855 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS989521806 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1D
RS989537576 ENG Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS989538225 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS989538601 AP5Z1 Health Risk Likely pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS989552169 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS989553837 FMO3 Health Risk Pathogenic FMO3-related disorder, FMO3-related disorder
RS989554566 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS989588363 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS989588546 SZT2 Health Risk Likely pathogenic —
RS989589885 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS9895963 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Prostate cancer
RS989599402 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS989639063 PPP1R21 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, facial dysmorphism
RS989639224 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS989653101 KIF7 Health Risk Likely pathogenic Acrocallosal syndrome, Hydrolethalus syndrome 2
RS989682938 TTC7A Health Risk Pathogenic/Likely pathogenic Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias
RS989692988 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS989757942 BCKDK Health Risk Likely pathogenic See cases, See cases
RS989787527 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS989816029 COL4A1 Health Risk Pathogenic —
RS989826317 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS989873156 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS989893662 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, 7 conditions
RS989894169 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS989901764 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS989951034 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS989952079 ZNF142 Health Risk Likely pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS990043411 NCF2 Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS990062370 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS990094915 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS990116233 CFB Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS990121358 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS990150249 WWOX Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS990151749 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS990153882 SUN2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
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