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
RS1582119130 C2 Health Risk Pathogenic/Likely pathogenic —
RS1582133194 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1582139086 EYS Health Risk Likely pathogenic —
RS1582139184 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1582139308 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1582139761 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1582139965 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1582140331 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1582146096 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1582146275 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1582146989 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1582154630 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1582164609 PHIP Health Risk Pathogenic —
RS1582169095 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS1582173192 VARS2 Health Risk Pathogenic/Likely pathogenic —
RS1582175173 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1582176424 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1582177745 POLR1C Health Risk Pathogenic Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS1582179372 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1582180665 PHIP Health Risk Pathogenic PHIP-related disorder, PHIP-related disorder
RS1582181247 POLR1C Health Risk Pathogenic Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS1582184344 POLR1C Health Risk Pathogenic Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS1582187890 SKIC2 Health Risk Likely pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS1582192007 SKIC2 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS1582196903 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Ullrich congenital muscular dystrophy 2
RS1582206547 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1582208315 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Ullrich congenital muscular dystrophy 2
RS1582221424 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1582232661 RUNX2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Cleidocranial dysostosis
RS1582233598 MAP3K7 Health Risk Likely pathogenic —
RS1582233787 MAP3K7 Health Risk Likely pathogenic Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome
RS1582241382 EYS Health Risk Likely pathogenic —
RS1582249186 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1582264160 RARS2 Health Risk Pathogenic —
RS1582275277 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1582297122 POLH Health Risk Pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS1582298980 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1582299448 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1582300748 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1582302625 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1582302950 CYP21A2 Health Risk Pathogenic —
RS1582304457 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1582304536 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1582305275 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1582307951 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1582309414 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1582312633 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1582323732 GUCA1A;GUCA1ANB-GUCA1A Health Risk Pathogenic/Likely pathogenic Cone dystrophy 3, Isolated macular dystrophy
RS1582337456 TNXB Health Risk Likely pathogenic —
RS1582367960 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1582373132 RSPH9 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1582373258 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1582376398 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS1582376560 EYS Health Risk Pathogenic —
RS1582376609 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1582376797 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1582392486 RTN4IP1 Health Risk Likely pathogenic Optic atrophy 10 with or without ataxia, intellectual disability
RS1582396088 OSTM1 Health Risk Pathogenic Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
RS1582402094 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome
RS1582418143 HACE1 Health Risk Pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS1582425360 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1582425406 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1582436832 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1582441455 PKHD1 Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS1582441668 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1582461023 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS1582461039 NUS1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1582461235 NUS1 Health Risk Pathogenic —
RS1582461267 NUS1 Health Risk Pathogenic Intellectual disability, autosomal dominant 55
RS1582469538 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1582470309 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1582477100 NUS1 Health Risk Likely pathogenic Congenital disorder of glycosylation, type IAA
RS1582479341 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1582558097 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, Oculodentodigital dysplasia
RS1582558514 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, GJA1-related disorder
RS1582558666 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, Oculodentodigital dysplasia
RS1582571021 EYS Health Risk Pathogenic —
RS1582576986 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1582601669 SOX4 Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 10, Intellectual disability
RS1582601747 SOX4 Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 10, Intellectual disability
RS1582609458 PSMB8 Health Risk Pathogenic Proteosome-associated autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
RS1582634064 IFNGR1 Health Risk Conflicting classifications of pathogenicity Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection
RS1582634237 IFNGR1 Health Risk Pathogenic Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection
RS1582635229 IFNGR1 Health Risk Pathogenic Immunodeficiency 27A, Immunodeficiency 27A
RS1582637044 IFNGR1 Health Risk Likely pathogenic Immunodeficiency 27A, Immunodeficiency 27A
RS1582665975 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases
RS1582666067 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1582683374 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS1582697948 SNX14 Health Risk Likely pathogenic —
RS1582712331 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1582724664 MRPL3 Health Risk Pathogenic Combined oxidative phosphorylation defect type 9, Combined oxidative phosphorylation defect type 9
RS1582732852 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS1582744649 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS1582753394 EYS Health Risk Pathogenic —
RS1582757650 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS1582759492 PRPH2 Health Risk Conflicting classifications of pathogenicity Macular dystrophy, PRPH2-related disorder
RS1582759785 PRPH2 Health Risk Pathogenic Patterned macular dystrophy 1, PRPH2-related disorder
RS1582760004 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS1582764504 PRPH2 Health Risk Pathogenic/Likely pathogenic Macular dystrophy, Macular dystrophy
RS1582764519 PRPH2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
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