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
RS1558459273 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1558459684 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558459826 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558459882 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558459885 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS1558461545 MCFD2 Health Risk Pathogenic Factor 5 and Factor VIII, combined deficiency of
RS1558461615 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1558461683 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558462016 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558464008 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558464271 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1558464315 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS1558464351 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558464965 OTOF Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Hearing loss
RS1558466434 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1558466437 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558466577 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS1558466620 OTOF Health Risk Pathogenic —
RS1558466685 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS1558466769 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1558468009 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS1558472224 OTOF Health Risk Pathogenic —
RS1558472243 OTOF Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1558474706 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS1558478047 KDM5B Health Risk Likely pathogenic Intellectual disability, autosomal recessive 65
RS1558478062 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1558478136 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558478567 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1558479778 KDM5B Health Risk Pathogenic Intellectual disability, autosomal recessive 65
RS1558480402 OTOF Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1558481148 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1558482554 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1558485249 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1558486388 OTOF Health Risk Likely pathogenic Glioma susceptibility 1, Autosomal recessive nonsyndromic hearing loss 9
RS1558488002 PCARE Health Risk Pathogenic —
RS1558488513 PCARE Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1558488588 KDM5B Health Risk Pathogenic —
RS1558488902 OTOF Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Hearing loss
RS1558489384 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1558489563 PXDN Health Risk Likely pathogenic Anterior segment dysgenesis, Anterior segment dysgenesis
RS1558490060 PCARE Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 54
RS1558490542 OTOF Health Risk Pathogenic Deafness, Hearing loss
RS1558492758 OTOF Health Risk Pathogenic —
RS1558493602 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1558498928 KDM5B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 65
RS1558499471 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS1558501648 KDM5B Health Risk Pathogenic Intellectual disability, autosomal recessive 65
RS1558502635 PREPL Health Risk Pathogenic Premature ovarian insufficiency, Premature ovarian insufficiency
RS1558507406 NRXN1 Health Risk risk factor Schizophrenia 17, Schizophrenia 17
RS1558508067 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1558508137 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558508343 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1558508399 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1558509149 NBAS Health Risk Pathogenic/Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS1558510749 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Lynch syndrome 1
RS1558510783 SLC5A6 Health Risk Pathogenic Squamous cell lung carcinoma, Cervical cancer
RS1558511051 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558511092 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558511106 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1558511163 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558511191 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1558513252 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1558513494 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS1558514428 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558514500 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1558514834 ADAM17 Health Risk Pathogenic Inflammatory skin and bowel disease, neonatal
RS1558517363 COLEC11 Health Risk Likely pathogenic —
RS1558517928 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1558518449 MSH2 Health Risk Pathogenic Glioblastoma, Glioblastoma
RS1558518517 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558518588 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1558518671 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1558519119 BCL11A Health Risk Pathogenic/Likely pathogenic Cerebellar vermis hypoplasia, Corpus callosum
RS1558519505 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1558519543 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1558519611 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558519731 BCL11A Health Risk Likely pathogenic —
RS1558519942 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558521605 MSH2 Health Risk Likely pathogenic Ovarian neoplasm, Hereditary cancer-predisposing syndrome
RS1558521698 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1558521842 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558521929 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colon cancer
RS1558521949 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1558524059 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558526023 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558526026 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558526036 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558526293 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558529034 SLC1A4 Health Risk Pathogenic Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS1558533831 MYCN;MYCNOS Health Risk Likely pathogenic —
RS1558534266 MYCN Health Risk Pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS1558534492 MYCN Health Risk Pathogenic —
RS1558536389 MYCN Health Risk Conflicting classifications of pathogenicity —
RS1558542714 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1558543066 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS1558548925 ALPL Health Risk Likely pathogenic Hypophosphatasia, Infantile hypophosphatasia
RS1558549099 ALPL Health Risk Pathogenic Decreased circulating alkaline phosphatase activity, Decreased circulating alkaline phosphatase activity
RS1558549798 ALPL Health Risk Pathogenic Adult hypophosphatasia, Childhood hypophosphatasia
RS1558551117 TTC7A Health Risk Pathogenic/Likely pathogenic Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1
RS1558553140 MTA3 Health Risk Likely pathogenic Short stature, Short stature
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