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
RS142046798 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS142047326 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS142047577 TGFB3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Hypertrophic cardiomyopathy
RS1420479305 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1420479673 TFAP2A Health Risk Conflicting classifications of pathogenicity Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS142048596 PKD1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKD1L1-related disorder
RS142050154 D2HGDH Health Risk Pathogenic/Likely pathogenic D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS142053576 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Inborn genetic diseases
RS142053596 LRP12 Health Risk Conflicting classifications of pathogenicity Oculopharyngodistal myopathy 1, Amyotrophic lateral sclerosis 28
RS142054590 MCM3AP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1420546201 PCARE Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 54
RS142054672 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1420555678 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1420558923 RGS9 Health Risk Pathogenic —
RS142056637 SLC24A5 Health Risk Pathogenic —
RS142056660 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS142056835 KIF1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic ataxia 2
RS142058513 ABCD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Adrenoleukodystrophy
RS142058793 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS142059019 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS142059069 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS142059197 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS142059527 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS142059662 RMND1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 11, Inborn genetic diseases
RS142059681 WT1 Health Risk Conflicting classifications of pathogenicity Frasier syndrome, Wilms tumor 1
RS142059751 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS1420598605 RETREG1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS1420601296 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1420609104 GATA2 Health Risk Pathogenic/Likely pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1420619668 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS142062082 CANT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142062146 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1420623853 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Inborn genetic diseases
RS142062738 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1420628245 CNGB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 45
RS1420631223 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Frontometaphyseal dysplasia
RS142063328 CHRND Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 3A
RS142063461 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Malignant tumor of breast
RS1420636219 TMEM63B Health Risk Pathogenic/Likely pathogenic TMEM63B-associated disorder, Rare epilepsy
RS142063738 VPS35 Health Risk Conflicting classifications of pathogenicity Parkinson disease 17, Parkinson disease 17
RS1420640611 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS142064825 MMP13 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, Missouri type
RS142064826 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS1420648751 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1420651559 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142065232 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS142065958 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1420662989 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS1420667073 TSPEAR Health Risk Pathogenic —
RS142066904 APOB Health Risk Pathogenic Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS142067039 PIGW Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases
RS1420670406 POLR3A Health Risk Pathogenic —
RS1420672586 RPE65 Health Risk Pathogenic Leber congenital amaurosis, Retinitis pigmentosa 20
RS142068825 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1420689736 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1420691965 TRIP11 Health Risk Pathogenic Odontochondrodysplasia 1, Achondrogenesis
RS1420692006 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS142069429 AGK Health Risk Conflicting classifications of pathogenicity Cataract 38, Sengers syndrome
RS142069844 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS142070439 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS1420709766 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS142071466 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS142072017 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Rheumatoid arthritis
RS142072315 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS142073032 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS142073418 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Retinitis pigmentosa
RS142073640 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
RS142073798 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS142073810 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, MYH8-related disorder
RS142074233 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1420747225 ERCC3 Health Risk Likely pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS1420747523 SMAD3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1420750126 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS1420750905 DNAJC21 Health Risk Pathogenic —
RS1420754603 COL7A1 Health Risk Pathogenic 7 conditions, 7 conditions
RS142075650 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS1420757773 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1420771120 CRLF1 Health Risk Likely pathogenic —
RS142077822 UGT1A1 Health Risk Conflicting classifications of pathogenicity Gilbert syndrome, Gilbert syndrome
RS142077823 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, ASL-related disorder
RS1420779550 HBB Health Risk Likely pathogenic —
RS1420779915 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS142078450 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS142079276 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Inborn genetic diseases
RS142079728 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1420797541 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS142080405 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Donnai-Barrow syndrome
RS142080697 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Inborn genetic diseases
RS142081800 LSS Health Risk Pathogenic/Likely pathogenic Alopecia-intellectual disability syndrome 4, Cataract 44
RS142082313 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS142083484 ANXA11 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 23, Amyotrophic lateral sclerosis
RS142083777 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS1420847667 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS142085017 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS142085300 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS1420871345 SOX5 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS142087616 VPS13D Health Risk Conflicting classifications of pathogenicity —
RS1420885213 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS142088541 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS142089943 STRA6 Health Risk Conflicting classifications of pathogenicity Matthew-Wood syndrome, STRA6-related disorder
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