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
RS1469574477 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BRCA2-related cancer predisposition
RS146960286 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS146960401 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, VPS13B-related disorder
RS1469620436 NOTCH3 Health Risk Pathogenic —
RS146962414 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related disorder, Pierson syndrome
RS146962984 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS146963107 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS146963572 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS146964054 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS146965005 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1469652745 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS146965680 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS146967918 FKTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Walker-Warburg congenital muscular dystrophy
RS146967928 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, Inborn genetic diseases
RS146967957 PLS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PLS1-related disorder
RS146968459 GDF5 Health Risk Pathogenic/Likely pathogenic —
RS146968493 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS146969255 PIGV Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1
RS1469699202 MPV17 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS146970014 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS146970027 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS146970233 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS146970674 MAGEL2 Health Risk Conflicting classifications of pathogenicity —
RS1469708148 SPTB Health Risk Pathogenic —
RS1469711487 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS1469714335 HGD Health Risk Pathogenic Alkaptonuria, Gastric cancer
RS146971634 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, Inborn genetic diseases
RS146971652 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS146971757 CFAP43 Health Risk Conflicting classifications of pathogenicity CFAP43-related disorder, CFAP43-related disorder
RS1469729130 VPS13B Health Risk Pathogenic Global developmental delay, Retinal dystrophy
RS1469730786 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS146973564 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS146973734 GDF3 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 7, Microphthalmia
RS146973799 AGPAT2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1, AGPAT2-related disorder
RS1469739934 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS146974265 NEUROG3 Health Risk Conflicting classifications of pathogenicity NEUROG3-related disorder, Inborn genetic diseases
RS146975341 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS146975768 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group F
RS1469760018 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS146976290 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS146976547 POC1A Health Risk Conflicting classifications of pathogenicity Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Inborn genetic diseases
RS146976856 EPB41 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 1, Elliptocytosis 1
RS146976883 TOR1AIP1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Y, TOR1AIP1-related disorder
RS146977165 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS146977269 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
RS146977278 PRICKLE3 Health Risk Conflicting classifications of pathogenicity —
RS146977539 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS146978168 GALNT3 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS1469787406 COL11A1 Health Risk Pathogenic/Likely pathogenic Fibrochondrogenesis 1, Marshall syndrome
RS146980198 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL10A1-related disorder
RS146980624 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS146980702 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, ADAM9-related disorder
RS146982082 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS146982102 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS146982209 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS146982282 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1469836617 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS146986015 SPG21 Health Risk Conflicting classifications of pathogenicity Mast syndrome, Hereditary spastic paraplegia
RS1469863276 NPHS2 Health Risk Pathogenic —
RS1469878578 SOX11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypogonadotropic hypogonadism
RS146988096 KRT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146988468 FARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1469887040 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS146989944 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS146990068 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, ABCA12-related disorder
RS1469902314 TPP1 Health Risk Pathogenic —
RS1469902667 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS146990317 DLL1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS146990376 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS146990448 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS146990471 SPTB Health Risk Conflicting classifications of pathogenicity —
RS146990608 RNF213 Health Risk Conflicting classifications of pathogenicity Moyamoya disease 2, Moyamoya disease 2
RS1469912999 PIGB Health Risk Likely pathogenic —
RS1469916243 RYR1 Health Risk Pathogenic RYR1-related disorder, Central core myopathy
RS1469917649 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1469918162 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1469919677 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS146993090 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS1469935655 MYO18B Health Risk Pathogenic —
RS1469938477 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS146993892 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS146994573 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS146995242 PRPF3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PRPF3-related disorder
RS1469952990 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1469961964 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1469962264 HPSE2 Health Risk Pathogenic Urofacial syndrome type 1, Urofacial syndrome type 1
RS146996627 TNRC6B Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS146997233 CD3D Health Risk Conflicting classifications of pathogenicity Immunodeficiency 19, Immunodeficiency 19
RS1469975894 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS146997967 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1469983269 MAP3K20 Health Risk Pathogenic —
RS1469986980 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Diabetic retinopathy, Diabetic retinopathy
RS1469992138 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS146999462 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS146999911 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Cardiovascular phenotype
RS147000344 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Inborn genetic diseases
RS147000526 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Woolly hair-skin fragility syndrome
RS147000685 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS147000954 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS147001219 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
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