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
RS769419654 SYNE1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia, Beauce type
RS769419740 CFI Health Risk Conflicting classifications of pathogenicity Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly
RS769420899 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS769420945 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS769421063 GNAT2 Health Risk Pathogenic —
RS769421511 SH2B1 Health Risk Conflicting classifications of pathogenicity —
RS769421715 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS769421755 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS769421796 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS769422187 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769422518 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS769423339 HPGD Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS769425660 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS769426298 COL13A1 Health Risk Pathogenic —
RS769426415 ERCC2 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS769427505 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS769429015 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia 2
RS769429279 ECHS1 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS769429967 MTMR2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4
RS769430360 LSS Health Risk Likely pathogenic —
RS769430546 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS769432194 COL18A1 Health Risk Pathogenic —
RS769433180 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS769433253 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Inborn genetic diseases
RS769433488 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS769433759 CDH23 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1D, Rare genetic deafness
RS769434273 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS769435926 ELOVL4 Health Risk Conflicting classifications of pathogenicity Stargardt disease 3, Stargardt disease 3
RS769437282 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS769437554 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS769438082 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS769438280 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS769438485 ELOVL4 Health Risk Pathogenic —
RS769438908 HGF Health Risk Conflicting classifications of pathogenicity —
RS769439021 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Malignant tumor of breast
RS769439754 NIPBL Health Risk Conflicting classifications of pathogenicity Global developmental delay, Inborn genetic diseases
RS769439901 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS769440001 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS769440447 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS769441127 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS769441475 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS769442066 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Amyotrophic neuralgia, Amyotrophic neuralgia
RS769443188 STRC Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 16, STRC-related disorder
RS769445913 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS769446356 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS769446481 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS769446796 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS769446880 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS769447751 RMP64 Health Risk Pathogenic Anauxetic dysplasia 3, Anauxetic dysplasia 3
RS769448665 SLC7A9 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS769448704 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5
RS769448730 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS769449169 FTL Health Risk Conflicting classifications of pathogenicity Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts
RS769450739 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS769451292 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS769452 APOE Health Risk Conflicting classifications of pathogenicity Alzheimer disease 4, Cardiovascular phenotype
RS769452066 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769452431 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Inborn genetic diseases
RS769452933 F7 Health Risk Pathogenic/Likely pathogenic Factor VII deficiency, Congenital factor VII deficiency
RS769454280 ELAC2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS76945459 HAL Health Risk association Increased histidine, Increased histidine
RS769454642 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS769455 APOE Health Risk Conflicting classifications of pathogenicity Familial type 3 hyperlipoproteinemia, Cardiovascular phenotype
RS769455161 F7 Health Risk Likely pathogenic —
RS769456095 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS769456978 NDUFS1 Health Risk Pathogenic —
RS769457761 TCTN1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS769458536 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS769458738 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS769459081 GMPPB Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS769459507 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS769459561 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS769459614 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS769459883 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS769460415 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS769460781 ENPP1 Health Risk Likely pathogenic —
RS769460876 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS769461019 CYP19A1 Health Risk Pathogenic/Likely pathogenic Aromatase deficiency, Aromatase excess syndrome
RS769461186 PDYN Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS769462010 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769462859 MYO3A Health Risk Pathogenic —
RS769463299 COQ2 Health Risk Likely pathogenic —
RS769463654 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome
RS769464008 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS769466283 ANO6 Health Risk Pathogenic —
RS76946640 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS769466698 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS769467251 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Melanoma
RS769467382 CYFIP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769467387 ROR2 Health Risk Conflicting classifications of pathogenicity —
RS769468125 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS769468514 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS769468812 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769469366 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS769471341 MED23 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 18
RS769471844 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, susceptibility to
RS769471957 DNAAF4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769473411 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS769474473 FBN2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Congenital contractural arachnodactyly
RS769474578 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
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