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
RS2125763683 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2125764106 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2125765369 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2125772569 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2125773087 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2125773395 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer
RS2125774645 SCLT1 Health Risk Likely pathogenic —
RS2125777824 MYD88 Health Risk Likely pathogenic Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency
RS2125780480 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS2125780619 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2125783563 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125784050 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2125784348 NPHS2 Health Risk Pathogenic Steroid-resistant nephrotic syndrome, Steroid-resistant nephrotic syndrome
RS2125784530 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2125784723 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2125784983 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colon cancer
RS2125786567 NPHS2 Health Risk Pathogenic —
RS2125790074 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS2125790095 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS2125790113 NPHS2 Health Risk Pathogenic —
RS2125791006 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2125793456 SCLT1 Health Risk Pathogenic —
RS2125794023 KIF1A Health Risk Pathogenic Intellectual disability, autosomal dominant 9
RS2125805231 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS2125805306 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125805569 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2125808143 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125808812 MLH1 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2125809242 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2125818891 PGAP1 Health Risk Likely pathogenic —
RS2125821701 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125821720 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125821851 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2125822911 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125822934 PGAP1 Health Risk Pathogenic Intellectual disability, autosomal recessive 42
RS2125822944 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125822971 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125823340 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125823466 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125825662 SCN5A Health Risk Pathogenic —
RS2125826148 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Cardiac arrhythmia
RS2125826555 SCN5A Health Risk Pathogenic —
RS2125830430 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome 1
RS2125831782 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS2125834231 SCN5A Health Risk Pathogenic —
RS2125835214 SCN5A Health Risk Pathogenic —
RS2125835336 SCN5A Health Risk Pathogenic —
RS2125835443 SCN5A Health Risk Pathogenic —
RS2125835467 SCN5A Health Risk Pathogenic —
RS2125835486 SCN5A Health Risk Pathogenic Brugada syndrome, Brugada syndrome
RS2125836464 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125837018 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125837110 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 1
RS2125837128 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2125837477 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125837758 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2125840669 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2125840793 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2125841157 SCN5A Health Risk Likely pathogenic —
RS2125843413 FYCO1 Health Risk Pathogenic —
RS2125844554 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS2125844563 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS2125845625 KLHL40 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS2125846016 FYCO1 Health Risk Pathogenic Cataract 18, Cataract 18
RS2125846068 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS2125849528 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS2125849694 SCN5A Health Risk Pathogenic Cardiac arrhythmia, Cardiovascular phenotype
RS2125849703 SCN5A Health Risk Pathogenic —
RS2125849964 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS2125852740 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125852830 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125853842 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125854201 MLH1 Health Risk Pathogenic —
RS2125854993 MLH1 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2125855058 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125859204 FYCO1 Health Risk Pathogenic Cataract 18, Cataract 18
RS2125859216 FYCO1 Health Risk Pathogenic Cataract 18, Cataract 18
RS2125861707 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS2125864009 SCN5A Health Risk Likely pathogenic Brugada syndrome 1, Long QT syndrome 3
RS2125870732 SCN5A Health Risk Pathogenic —
RS2125870810 SCN5A Health Risk Pathogenic —
RS2125871040 SCN5A Health Risk Pathogenic/Likely pathogenic —
RS2125871221 SCN5A Health Risk Pathogenic —
RS2125871275 SCN5A Health Risk Pathogenic —
RS2125871836 SCN5A Health Risk Pathogenic Cardiac arrhythmia, Cardiac arrhythmia
RS2125874950 KIF1A Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Neuropathy
RS2125879653 MLH1 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2125879720 MLH1 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2125881021 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125881165 SCN5A Health Risk Likely pathogenic —
RS2125881256 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2125882042 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125883954 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125884574 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2125885422 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer
RS2125886028 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125886267 MLH1 Health Risk Pathogenic Carcinoma of colon, Colorectal cancer
RS2125887070 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125887276 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2125889990 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
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