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
RS2066640120 COL4A5 Health Risk Likely pathogenic Alport syndrome, X-linked Alport syndrome
RS2066649828 MITF Health Risk Pathogenic —
RS2066652447 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS2066653512 ACO2 Health Risk Pathogenic Optic atrophy 9, Optic atrophy 9
RS2066663117 COL4A5 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS2066718 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS2066733 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS2066734214 COL4A5 Health Risk Likely pathogenic —
RS2066735315 COL4A5 Health Risk Pathogenic/Likely pathogenic —
RS2066736770 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066736944 COL4A5 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2066749314 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2066765994 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2066766926 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2066773116 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2066785062 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2066785267 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066785835 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066785949 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066786100 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066786672 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066787009 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066787606 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2066802091 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Retinal dystrophy
RS2066827 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS2066831 PTCH1 Health Risk Pathogenic —
RS2066834 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2066844 NOD2 Health Risk Conflicting classifications of pathogenicity; association Blau syndrome, Yao syndrome
RS2066845 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Yao syndrome
RS2066847 NOD2 Health Risk Conflicting classifications of pathogenicity; association Yao syndrome, Blau syndrome
RS2066859618 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2066861383 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2066862 FGG Health Risk Conflicting classifications of pathogenicity FIBRINOGEN PARIS 1, Congenital afibrinogenemia
RS2066864084 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2066874267 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066874419 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066874810 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2066876397 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066876556 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066877456 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066877516 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066877587 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066879614 TCTN1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2066881864 HUWE1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2066882139 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2066894484 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2066897889 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2066899099 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066901407 COL4A5 Health Risk Pathogenic —
RS2066903607 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2066904707 MECP2 Health Risk Pathogenic —
RS2066907057 MECP2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Rett syndrome
RS2066910297 GPHN Health Risk Likely pathogenic Seizure, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2066914171 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2066915159 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2066926774 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066927450 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066927581 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066928095 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066928367 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066928784 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066929440 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066942076 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2066942173 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066942649 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2066961306 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2066961890 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066962321 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2066962353 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066962518 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066962730 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066964073 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066964219 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066989409 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066989481 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066990036 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066990429 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2066990838 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066990906 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066990975 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066991605 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066991676 NF1 Health Risk Pathogenic —
RS2066991740 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2066992127 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066992207 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066992658 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066993468 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066993840 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2066993930 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066994053 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067016221 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2067016341 CASK Health Risk Pathogenic —
RS2067016459 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS2067016480 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067016517 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2067017409 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067017511 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2067018146 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067018186 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2067018223 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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