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
RS2104056063 ALMS1 Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS2104057987 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104058286 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS2104058704 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS2104059095 ST3GAL5 Health Risk Likely pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS2104060044 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2104063527 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Cardiovascular phenotype
RS2104063719 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104063769 ALMS1 Health Risk Pathogenic/Likely pathogenic —
RS2104063862 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS2104065629 TET3 Health Risk Likely pathogenic —
RS2104068395 SPTBN1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2104082025 MSH2 Health Risk Pathogenic/Likely pathogenic Carcinoma of colon, Hereditary nonpolyposis colorectal neoplasms
RS2104082965 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colon cancer, Lynch syndrome 1
RS2104086036 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104086208 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104086603 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2104087118 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2104087743 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104090316 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104092142 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104096959 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104097377 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104097899 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104097954 MSH2 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2104097957 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104098003 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS2104098243 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104100358 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104100985 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104101733 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104102138 SPRED2 Health Risk Pathogenic Noonan syndrome 14, Noonan syndrome
RS2104102733 MSH2 Health Risk Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer
RS2104103586 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104104085 ALMS1 Health Risk Pathogenic Alstrom syndrome, ALMS1-related disorder
RS2104104189 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS2104104246 ALMS1 Health Risk Likely pathogenic See cases, See cases
RS2104104304 ALMS1 Health Risk Pathogenic/Likely pathogenic —
RS2104104410 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2104104427 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS2104104628 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104105041 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104105065 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104105073 ALMS1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2104105305 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104106148 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104106303 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104106456 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colon cancer, Lynch syndrome 1
RS2104106546 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104108070 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104108180 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104108772 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colon cancer
RS2104110022 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104110271 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2104110751 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104111087 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104112957 MSH6 Health Risk Likely pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS2104113258 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104122592 TET3 Health Risk Pathogenic/Likely pathogenic —
RS2104137690 RPIA Health Risk Likely pathogenic Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
RS2104165669 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104168299 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104170912 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104172666 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms
RS2104173353 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104174410 CRIPT Health Risk Pathogenic —
RS2104174891 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104175191 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian neoplasm
RS2104175507 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104175554 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS2104175689 CNGA3 Health Risk Pathogenic —
RS2104177168 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104178065 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104178883 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104179024 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2104179097 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104179381 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104179388 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104180665 MSH2 Health Risk Conflicting classifications of pathogenicity Bile duct cancer, Hereditary cancer-predisposing syndrome
RS2104185998 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104186376 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104188795 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104188943 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104189157 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2104189255 ALMS1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2104194220 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104195295 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104195495 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104196326 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104198321 TET3 Health Risk Likely pathogenic Beck-Fahrner syndrome, Beck-Fahrner syndrome
RS2104199857 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104202909 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2104203068 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2104205990 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104206033 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104211236 FSHR Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS2104213507 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2104214893 TET3 Health Risk Likely pathogenic Beck-Fahrner syndrome, Beck-Fahrner syndrome
RS2104216032 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2104216988 SPRED2 Health Risk Pathogenic Noonan syndrome, Noonan syndrome 14
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