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
RS2063238551 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS2063243833 TBCD Health Risk Likely pathogenic —
RS2063244869 PDHA1 Health Risk Pathogenic —
RS2063245185 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2063246442 PDHA1 Health Risk Pathogenic —
RS2063246734 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2063281419 USP9X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2063287444 CEP250 Health Risk Pathogenic —
RS2063332964 DYM Health Risk Pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS2063344708 PQBP1 Health Risk Likely pathogenic Renpenning syndrome, Renpenning syndrome
RS2063352199 USP9X Health Risk Likely pathogenic —
RS2063356920 CEP83 Health Risk Pathogenic —
RS2063392759 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2063399418 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2063407237 HNF4A Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS2063412625 MADD Health Risk Pathogenic Deeah syndrome, MADD-related disorder
RS2063421489 COL4A4 Health Risk Likely pathogenic —
RS2063433750 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2063444025 PQBP1 Health Risk Likely pathogenic Renpenning syndrome, Renpenning syndrome
RS2063446897 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2063451959 PQBP1 Health Risk Likely pathogenic Renpenning syndrome, Autism spectrum disorder
RS2063471372 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2063472158 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2063473101 SUFU Health Risk Pathogenic Medulloblastoma, Gorlin syndrome
RS2063477224 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2063477376 SLC35A2 Health Risk Likely pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2063477918 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2063478568 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2063478987 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2063479086 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2063479133 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2063480012 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2063491273 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2063496235 HNF4A Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2063502424 KCNMA1 Health Risk Pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS2063514857 COL9A3 Health Risk Pathogenic —
RS2063517684 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2063529251 UMPS Health Risk Conflicting classifications of pathogenicity Hereditary orotic aciduria, type 1
RS2063541685 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2063547889 COL9A3 Health Risk Likely pathogenic Autosomal recessive Stickler syndrome, Autosomal recessive Stickler syndrome
RS2063551300 BPTF Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2063594580 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2063601999 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2063620799 OTUD5 Health Risk Pathogenic Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
RS2063643169 COL9A3 Health Risk Pathogenic —
RS2063659512 OTUD5 Health Risk Pathogenic Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
RS2063672832 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS2063697672 SUFU Health Risk Pathogenic —
RS2063734182 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2063751607 CEP250 Health Risk Likely pathogenic —
RS2063759438 HUWE1 Health Risk Likely pathogenic —
RS2063781031 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2063786151 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS2063786541 DDX3X Health Risk Likely pathogenic —
RS2063787069 DDX3X Health Risk Pathogenic —
RS2063787500 DDX3X Health Risk Pathogenic —
RS2063787705 HNF4A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2063787817 DDX3X Health Risk Pathogenic Intellectual disability, Lymphoma
RS2063787844 DDX3X Health Risk Pathogenic —
RS2063794106 SUFU Health Risk Likely pathogenic Medulloblastoma, Gorlin syndrome
RS2063801225 AP4E1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2063801903 OTUD5 Health Risk Pathogenic Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
RS2063809984 TCF3 Health Risk Likely pathogenic —
RS2063837029 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS2063839277 HNF4A Health Risk Pathogenic —
RS2063839688 CEP250 Health Risk Pathogenic CEP250-related disorder, CEP250-related disorder
RS2063850491 DDX3X Health Risk Pathogenic —
RS2063851984 HNF4A Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2063866129 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2063866727 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2063866799 DDX3X Health Risk Likely pathogenic —
RS2063867157 DDX3X Health Risk Pathogenic —
RS2063869050 DDX3X Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2063875026 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2063875155 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2063875651 DDX3X Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS2063875918 DDX3X Health Risk Pathogenic —
RS2063876114 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2063876197 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2063876393 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2063876594 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2063876979 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS2063883437 SNRNP200 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 33, Retinal dystrophy
RS2063885834 DDX3X Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2063889019 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2063889864 DDX3X Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 102
RS2063890662 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2063891560 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2063893070 DDX3X Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2063893838 SNRNP200 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2063899450 DMD Health Risk Likely pathogenic —
RS2063903818 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2063908023 DDX3X Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2063908570 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2063910538 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2063910640 DDX3X Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2063911610 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2063911698 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2063911832 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2063912153 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
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