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
RS1673966819 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS1673967254 WDR26 Health Risk Conflicting classifications of pathogenicity WDR26-related disorder, WDR26-related disorder
RS1673967760 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS1673992163 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1673996095 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1674047402 DNMT3A Health Risk Likely pathogenic —
RS1674056899 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Autism spectrum disorder
RS1674088052 LRPPRC Health Risk Pathogenic —
RS1674097675 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1674125188 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1674200670 PRUNE1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, hypotonia
RS1674217480 PREPL Health Risk Likely pathogenic Myasthenic syndrome, congenital
RS1674218963 NBAS Health Risk Pathogenic —
RS1674240361 SLC1A4 Health Risk Pathogenic/Likely pathogenic Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS1674240509 PRUNE1 Health Risk Pathogenic —
RS1674245097 GATAD2B Health Risk Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1674284224 SLC1A4 Health Risk Pathogenic Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS1674291042 EIF2AK3 Health Risk Pathogenic —
RS1674297842 FSHR Health Risk Likely pathogenic Ovarian dysgenesis 1, Ovarian dysgenesis 1
RS1674312870 GATAD2B Health Risk Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1674313030 GATAD2B Health Risk Pathogenic/Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1674323340 FSHR Health Risk Likely pathogenic Ovarian dysgenesis 1, Ovarian dysgenesis 1
RS1674335308 PTCD3 Health Risk Likely pathogenic See cases, Combined oxidative phosphorylation deficiency 51
RS1674341013 FSHR Health Risk Likely pathogenic Dizygotic twins, Hereditary xanthinuria type 1
RS1674342263 LRPPRC Health Risk Pathogenic —
RS1674353589 GATAD2B Health Risk Pathogenic Intellectual disability, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1674353634 GATAD2B Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1674357007 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1674381913 DNMT3A Health Risk Likely pathogenic —
RS1674395504 WDR26 Health Risk Conflicting classifications of pathogenicity Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS1674398736 WDR26 Health Risk Pathogenic —
RS1674398801 WDR26 Health Risk Likely pathogenic —
RS1674402990 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1674410575 EIF2AK3 Health Risk Pathogenic —
RS1674412113 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS1674430442 EIF2AK3 Health Risk Pathogenic/Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS1674463832 EIF2AK3 Health Risk Pathogenic —
RS1674465974 DNMT3A Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS1674480467 GATAD2B Health Risk Pathogenic/Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, See cases
RS1674488084 WDR26 Health Risk Pathogenic —
RS1674489086 PKLR Health Risk Conflicting classifications of pathogenicity —
RS1674500220 WDR26 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1674512996 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1674522395 GATAD2B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1674549393 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS1674549557 GATAD2B Health Risk Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1674554041 PKLR Health Risk Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS1674576482 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1674577139 GATAD2B Health Risk Pathogenic Inborn genetic diseases, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1674595991 EIF2AK2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy, developmental delay
RS1674601435 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1674604459 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1674604760 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1674609315 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1674673024 AKT3 Health Risk Conflicting classifications of pathogenicity Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
RS1674719462 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS1674723338 LPIN1 Health Risk Pathogenic Myoglobinuria, acute recurrent
RS1674744924 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS1674811011 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS1674934230 MSTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
RS1674943336 GATAD2B Health Risk Pathogenic —
RS1674944862 GATAD2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1674946144 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1674948389 GATAD2B Health Risk Pathogenic —
RS1674950708 GATAD2B Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1674952089 GATAD2B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1674954136 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1674958525 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1674959661 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1674962966 KCND3 Health Risk Likely pathogenic —
RS1674964088 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1674966041 KCND3 Health Risk Likely pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS1674967197 ALMS1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Alstrom syndrome
RS1674968936 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1674974639 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1674975219 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1674984864 DNMT3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Heyn-Sproul-Jackson syndrome
RS1674986110 DNMT3A Health Risk Likely pathogenic Heyn-Sproul-Jackson syndrome, Heyn-Sproul-Jackson syndrome
RS1675041538 LRPPRC Health Risk Pathogenic —
RS1675069387 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1675070099 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1675074248 MSH2 Health Risk Pathogenic —
RS1675074360 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1675076969 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1675077236 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1675077540 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1675087282 DNMT3A Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1675097381 REEP1 Health Risk Pathogenic —
RS1675100502 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS1675212022 CAD Health Risk Pathogenic —
RS1675307447 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS1675325580 DCTN1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Perry syndrome
RS1675334390 EIF2AK2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy, developmental delay
RS1675462891 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1675465013 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1675486182 HTRA2 Health Risk Pathogenic HTRA2-Related Disorders, HTRA2-Related Disorders
RS1675541893 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1675617353 HTRA2 Health Risk Likely pathogenic 3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8
RS1675622361 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1675623302 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
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