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
RS2103747818 EPCAM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2103747843 EPCAM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Congenital diarrhea 5 with tufting enteropathy
RS2103751857 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS2103752001 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2103752184 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2103753436 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2103753488 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2103756948 EPCAM Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2103757235 PPP1R21 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, facial dysmorphism
RS2103758938 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS2103760063 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2103767948 LHCGR Health Risk Pathogenic —
RS2103768437 EPCAM Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2103770769 EPCAM Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2103770992 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2103771067 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103771168 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103771218 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103771766 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2103772104 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103772444 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103772743 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103773428 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103774244 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS2103774323 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103774719 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS2103774725 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS2103775505 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103776149 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103776873 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103777026 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103777336 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103777457 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103777482 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103777652 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103777977 ALMS1 Health Risk Pathogenic —
RS2103778571 ALMS1 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS2103778657 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103778961 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103779035 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2103779248 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103779399 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103780557 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2103780610 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103780806 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103780942 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2103780952 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103781095 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103781518 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103781864 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103781901 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103781993 ALMS1 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS2103782122 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103782701 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103783763 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103783797 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103784887 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103785042 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS2103785778 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2103785835 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS2103786025 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103786330 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS2103786356 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103787249 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103787360 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2103787540 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103787808 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103787916 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103788334 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2103789078 PPP1R21 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, facial dysmorphism
RS2103789120 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103790206 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103790479 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103790992 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103791069 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103791083 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103791192 ALMS1 Health Risk Pathogenic Abnormality of the eye, Abnormality of the eye
RS2103791934 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2103793713 ALMS1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS2103794046 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2103821507 CALM2 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS2103823599 CALM2 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS2103823612 CALM2 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS2103823638 CALM2 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS2103823712 CALM2 Health Risk Pathogenic SUDDEN INFANT DEATH SYNDROME, SUDDEN INFANT DEATH SYNDROME
RS2103829011 SPTBN1 Health Risk Pathogenic —
RS2103829031 SPTBN1 Health Risk Pathogenic Developmental delay, impaired speech
RS2103830741 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2103836035 BCL11A Health Risk Conflicting classifications of pathogenicity BCL11A-related intellectual disability, BCL11A-related intellectual disability
RS2103838550 SPTBN1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS2103838734 SPTBN1 Health Risk Pathogenic Developmental delay, impaired speech
RS2103841359 BCL11A Health Risk Likely pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2103842476 SPTBN1 Health Risk Pathogenic Developmental delay, impaired speech
RS2103845910 BCL11A Health Risk Pathogenic BCL11A-related BAFopathy, BCL11A-related BAFopathy
RS2103850075 BCL11A Health Risk Likely pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2103850595 BCL11A Health Risk Pathogenic/Likely pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2103860886 BCL11A Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2103862119 BCL11A Health Risk Pathogenic —
RS2103863117 BCL11A Health Risk Pathogenic BCL11A-related BAFopathy, BCL11A-related BAFopathy
RS2103865102 PPP1R21 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, facial dysmorphism
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