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
RS1565169621 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1565169693 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1565170287 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1565170364 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1565171115 STIM1 Health Risk Pathogenic Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates
RS1565171672 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1565171906 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1565173309 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1565173405 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1565174105 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1565190345 RELA Health Risk Pathogenic —
RS1565191003 RELA Health Risk Pathogenic Mucocutaneous ulceration, chronic
RS1565191262 FAM111B Health Risk Likely pathogenic —
RS1565196333 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS1565196489 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1565197245 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1565199251 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1565200471 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1565205722 NFKB2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS1565205890 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1565206032 FAM111A Health Risk Pathogenic/Likely pathogenic Osteocraniostenosis, Autosomal dominant Kenny-Caffey syndrome
RS1565206758 TRPC6 Health Risk Likely pathogenic —
RS1565207233 NFKB2 Health Risk Pathogenic —
RS1565209327 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1565212298 KMT5B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1565213769 RNASEH2C Health Risk Conflicting classifications of pathogenicity —
RS1565214242 KMT5B Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS1565214594 NFKB2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS1565214970 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1565214993 NFKB2 Health Risk Pathogenic Immunodeficiency, common variable
RS1565215813 C2CD3 Health Risk Pathogenic —
RS1565216037 NARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS1565222166 RELT Health Risk Pathogenic Amelogenesis imperfecta, type 3C
RS1565224383 NDUFV1 Health Risk Likely pathogenic —
RS1565226034 KMT5B Health Risk Likely pathogenic —
RS1565226076 KMT5B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1565228898 MRE11 Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder
RS1565231185 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS1565233979 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS1565235204 NARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS1565237232 C2CD3 Health Risk Pathogenic Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS1565238322 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1565240833 KMT5B Health Risk Pathogenic Intellectual disability, autosomal dominant 51
RS1565244847 SERPINH1 Health Risk Pathogenic Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10
RS1565245427 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1565245598 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1565245835 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1565246499 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1565256477 MMP13 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Missouri type
RS1565264372 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1565264387 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1565264399 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1565271429 SLC6A5 Health Risk Likely pathogenic —
RS1565272952 PIK3C2A Health Risk Pathogenic Short stature, Oculocerebrodental syndrome
RS1565274421 EFEMP2 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS1565277245 PAX6 Health Risk Pathogenic Aniridia 1, PAX6-related disorder
RS1565278132 KMT2A Health Risk Pathogenic Intellectual disability, Inborn genetic diseases
RS1565280934 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1565281236 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1565286202 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1565286223 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1565286228 MYRF Health Risk Pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS1565286640 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1565287512 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1565287817 PIK3C2A Health Risk Likely pathogenic Oculocerebrodental syndrome, Oculocerebrodental syndrome
RS1565287921 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1565288355 PIK3C2A Health Risk Pathogenic —
RS1565288701 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1565289799 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1565291081 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1565293957 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1565294012 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1565294188 KMT2A Health Risk Pathogenic —
RS1565295267 MYRF Health Risk Likely pathogenic —
RS1565295286 MYRF Health Risk Pathogenic Encephalitis/encephalopathy, mild
RS1565295395 MYRF Health Risk Pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS1565295426 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1565295550 MYRF Health Risk Pathogenic/Likely pathogenic Cardiac-urogenital syndrome, Urogenital tract malformation
RS1565296895 KMT2A Health Risk Pathogenic —
RS1565297723 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1565297769 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1565298653 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1565303622 C2CD3 Health Risk Likely pathogenic Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS1565304230 MYRF Health Risk Pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS1565304395 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1565307564 MYRF Health Risk Pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS1565308384 MYRF Health Risk Pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS1565308833 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS1565310297 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1565310938 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1565311145 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1565311221 NPAT Health Risk Conflicting classifications of pathogenicity —
RS1565311875 CTSF Health Risk Pathogenic Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13
RS1565312182 ROBO3 Health Risk Pathogenic Gaze palsy, familial horizontal
RS1565312540 ALKBH8 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 71
RS1565312616 ROBO3 Health Risk Pathogenic Gaze palsy, familial horizontal
RS1565317399 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1565319164 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS1565322176 ROBO4 Health Risk Likely pathogenic Bicuspid aortic valve, Ascending tubular aorta aneurysm
RS1565326373 CEP57 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 2
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