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
RS1667315336 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1667315990 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS1667316070 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1667316878 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2A
RS1667317168 USH2A Health Risk Pathogenic —
RS1667318047 USH2A Health Risk Pathogenic —
RS1667339912 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1667380258 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1667386150 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1667386244 MSH2 Health Risk Pathogenic Lynch-like syndrome, Hereditary cancer-predisposing syndrome
RS1667387473 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1667389777 MSH2 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS1667394 HERC2 Health Risk association SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS1667395869 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1667397201 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS1667398945 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1667399090 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1667399535 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1667401329 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1667403360 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1667419336 AP4B1 Health Risk Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 47
RS1667423312 NBAS Health Risk Pathogenic —
RS1667449135 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS1667454188 PCARE Health Risk Likely pathogenic Retinitis pigmentosa 54, Retinal dystrophy
RS1667471296 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1667472317 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome type 2A
RS1667472659 PCARE Health Risk Pathogenic —
RS1667476173 PCARE Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 54, Autosomal recessive retinitis pigmentosa
RS1667478838 PCARE Health Risk Likely pathogenic —
RS1667480949 PCARE Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1667483876 PCARE Health Risk Pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS1667490450 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1667491330 PCARE Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1667492589 PCARE Health Risk Pathogenic —
RS1667492746 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1667495338 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1667496297 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1667497027 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1667502644 PCARE Health Risk Pathogenic —
RS1667504255 PCARE Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 54
RS1667504677 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1667504686 PCARE Health Risk Pathogenic —
RS1667506537 PCARE Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1667508280 PCARE Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy 23
RS1667510314 PCARE Health Risk Pathogenic —
RS1667513233 PCARE Health Risk Pathogenic Retinitis pigmentosa 54, Retinal dystrophy
RS1667514184 PCARE Health Risk Pathogenic —
RS1667514457 PCARE Health Risk Pathogenic —
RS1667517587 PCARE Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS1667521303 PCARE Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 54
RS1667524759 PCARE Health Risk Pathogenic —
RS1667533636 PCARE Health Risk Pathogenic —
RS1667575488 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Familial colorectal cancer
RS1667576996 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1667578908 MSH2 Health Risk Pathogenic —
RS1667583110 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1667583292 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1667637536 IFT172 Health Risk Pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS1667718178 NBAS Health Risk Conflicting classifications of pathogenicity Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS1667768234 TPO Health Risk Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1667894875 PPP1R21 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1667907522 PKDCC Health Risk Likely pathogenic Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features
RS1667910868 PPP1R21 Health Risk Likely pathogenic —
RS1667944556 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1667970548 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1668037260 USH2A Health Risk Conflicting classifications of pathogenicity —
RS1668049134 ADCY3 Health Risk Likely pathogenic —
RS1668112357 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1668116875 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1668118988 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1668121333 LHCGR Health Risk Pathogenic Leydig cell agenesis, Leydig cell agenesis
RS1668129543 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1668136752 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1668185105 MCFD2 Health Risk Likely pathogenic Thrombocytopenia, Abnormal bleeding
RS1668240410 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome
RS1668243665 USH2A Health Risk Pathogenic —
RS1668280406 AGBL5 Health Risk Likely pathogenic Retinitis pigmentosa 75, Retinitis pigmentosa 75
RS1668306278 AGBL5 Health Risk Pathogenic —
RS1668345404 AGBL5 Health Risk Pathogenic —
RS1668402514 AGBL5 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1668413357 AGBL5 Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 75
RS1668490262 AGBL5 Health Risk Pathogenic —
RS1668492338 AGBL5 Health Risk Pathogenic —
RS1668533101 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1668597244 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1668654133 IFT172 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1668683890 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1668686361 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1668692410 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1668698146 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1668856710 CFH Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical
RS1668859370 SOS1 Health Risk Pathogenic Noonan syndrome 4, Noonan syndrome 4
RS1668875104 ASH1L Health Risk Pathogenic —
RS1668918068 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1668919067 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1668934153 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1668950344 ALK Health Risk Likely pathogenic Rhabdomyosarcoma, Rhabdomyosarcoma
RS1668950412 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1668958083 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1668962676 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
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