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
RS727503010 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS727503011 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS727503022 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727503023 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727503024 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727503026 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727503027 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727503028 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727503029 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727503030 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Hypertelorism
RS727503031 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727503032 ELN Health Risk Conflicting classifications of pathogenicity —
RS727503033 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727503034 ELN Health Risk Pathogenic/Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727503035 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS727503036 EMD Health Risk Pathogenic Neuromuscular disease, Emery-Dreifuss muscular dystrophy
RS727503041 ESRRB Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS727503042 EYA1 Health Risk Pathogenic Rare genetic deafness, Branchiootic syndrome 1
RS727503047 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS727503048 EYA1 Health Risk Conflicting classifications of pathogenicity Melnick-Fraser syndrome, Branchiootic syndrome 1
RS727503049 EYA1 Health Risk Conflicting classifications of pathogenicity Branchiootic syndrome 1, Otofaciocervical syndrome 1
RS727503054 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, 6 conditions
RS727503055 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS727503056 FBN1 Health Risk Likely pathogenic Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS727503057 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS727503058 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS727503062 GIPC3 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 15
RS727503066 GJB2 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, 8 conditions
RS727503069 GJB3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 2B
RS727503072 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS727503074 ADGRV1 Health Risk Pathogenic/Likely pathogenic ADGRV1-related disorder, ADGRV1-related disorder
RS727503075 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS727503076 ADGRV1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727503078 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS727503080 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS727503082 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS727503093 HRAS Health Risk Likely pathogenic Non-small cell lung carcinoma, Costello syndrome
RS727503094 HRAS Health Risk Pathogenic Costello syndrome, Costello syndrome
RS727503106 KRAS Health Risk Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS727503107 KRAS Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS727503108 KRAS Health Risk Conflicting classifications of pathogenicity Non-small cell lung carcinoma, Noonan syndrome
RS727503109 KRAS Health Risk Pathogenic/Likely pathogenic RASopathy, Cardio-facio-cutaneous syndrome
RS727503110 KRAS Health Risk Likely pathogenic Noonan syndrome, RASopathy
RS727503113 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS727503115 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS727503116 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS727503118 LAMP2 Health Risk Pathogenic Danon disease, Hypertrophic cardiomyopathy
RS727503119 LAMP2 Health Risk Pathogenic Danon disease, Thyroid cancer
RS727503120 LAMP2 Health Risk Pathogenic/Likely pathogenic Danon disease, Hypertrophic cardiomyopathy
RS727503121 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS727503123 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Dilated cardiomyopathy 1C
RS727503126 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS727503129 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Myofibrillar myopathy 4
RS727503132 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS727503136 LMNA Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS727503137 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS727503146 LOXHD1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727503147 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS727503153 LRTOMT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727503157 MARVELD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727503166 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Cardiovascular phenotype
RS727503167 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503171 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503172 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS727503174 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503175 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503176 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503177 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503178 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503180 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS727503181 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS727503182 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503184 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503186 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS727503187 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503188 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS727503189 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS727503191 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS727503192 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS727503194 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
RS727503195 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS727503196 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS727503197 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503202 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS727503203 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503204 MYBPC3 Health Risk Pathogenic Cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS727503205 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503207 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS727503209 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503210 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503211 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503212 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727503213 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS727503216 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS727503217 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503219 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503220 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727503225 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Hepatocellular carcinoma
RS727503228 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727503235 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiomyopathy
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