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
RS2541000749 DNM1L Health Risk Likely pathogenic —
RS2541005761 MYRF Health Risk Pathogenic MYRF-related disorder, MYRF-related disorder
RS2541006365 DMRT1 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS2541008031 DNM1L Health Risk Likely pathogenic Encephalopathy, lethal
RS2541008058 DNM1L Health Risk Likely pathogenic —
RS2541012589 SPTAN1 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS2541014094 DNM1L Health Risk Pathogenic —
RS2541018989 OTOGL Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS2541022132 MYRF Health Risk Likely pathogenic —
RS2541031934 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2541033292 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2541033378 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2541033401 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2541038785 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS2541039394 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2541045553 DNM1L Health Risk Likely pathogenic —
RS2541046070 DNM1L Health Risk Likely pathogenic Encephalopathy, lethal
RS2541053697 SPTAN1 Health Risk Pathogenic —
RS2541054175 OTOGL Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2541055791 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2541064312 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS2541079837 ABCC9 Health Risk Pathogenic/Likely pathogenic ABCC9-related disorder, Hypertrichotic osteochondrodysplasia Cantu type
RS2541080714 DNM1L Health Risk Likely pathogenic Encephalopathy, lethal
RS2541083787 DNM1L Health Risk Pathogenic —
RS2541088599 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS2541088913 CEP83 Health Risk Likely pathogenic —
RS2541091574 DNM1L Health Risk Likely pathogenic —
RS2541102937 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2541110091 DNM1L Health Risk Likely pathogenic —
RS2541118749 SPTAN1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2541133807 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 5
RS2541136016 SPTAN1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2541136426 FANCC Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2541137167 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2541137951 ABCC9 Health Risk Pathogenic/Likely pathogenic Intellectual disability and myopathy syndrome, Dilated cardiomyopathy 1O
RS2541137972 FANCC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541138686 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS2541139199 DNM1L Health Risk Likely pathogenic Encephalopathy, lethal
RS2541139869 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2541157238 SPTAN1 Health Risk Likely pathogenic SPTAN1-related disorder, SPTAN1-related disorder
RS2541163218 YARS2 Health Risk Pathogenic —
RS2541163589 YARS2 Health Risk Pathogenic —
RS2541164176 YARS2 Health Risk Pathogenic —
RS2541164317 YARS2 Health Risk Pathogenic —
RS2541164598 YARS2 Health Risk Pathogenic —
RS2541168710 SPTAN1 Health Risk Pathogenic/Likely pathogenic —
RS2541175755 FANCC Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Hereditary cancer-predisposing syndrome
RS2541176302 FANCC Health Risk Likely pathogenic —
RS2541184345 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541184794 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541184876 PKP2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS2541184950 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541189783 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2541189820 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541190447 PKP2 Health Risk Pathogenic —
RS2541196350 ABCC9 Health Risk Pathogenic —
RS2541196393 OTOGL Health Risk Likely pathogenic OTOGL-related disorder, OTOGL-related disorder
RS2541196551 OTOGL Health Risk Pathogenic —
RS2541200399 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541200709 PKP2 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2541200961 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541228873 OTOGL Health Risk Pathogenic —
RS2541229274 PKP2 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS2541229674 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541229697 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541231730 PKP2 Health Risk Likely pathogenic —
RS2541231754 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541231907 PKP2 Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS2541231979 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541232121 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541234463 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541264915 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541265153 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541265388 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541270026 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS2541270276 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy
RS2541270502 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS2541270576 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS2541277989 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2541279278 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2541280442 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2541280518 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2541282849 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2541283849 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2541284221 PCDH15 Health Risk Likely pathogenic —
RS2541285839 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS2541286911 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541287399 CEP83 Health Risk Likely pathogenic Ciliopathy, Ciliopathy
RS2541287551 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS2541303541 CEP164 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2541306591 OTOGL Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 84B, Rare genetic deafness
RS2541309055 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2541309342 OTOGL Health Risk Pathogenic —
RS2541310904 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2541312035 EHMT1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2541314706 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2541322583 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541326881 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2541331724 BEST1 Health Risk Pathogenic —
RS2541332053 BEST1 Health Risk Likely pathogenic —
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