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
RS1694272372 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1694273552 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1694279608 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1694311922 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia
RS1694331040 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Nephrotic syndrome
RS1694335489 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1694347562 SLC4A10 Health Risk Pathogenic/Likely pathogenic SLC4A10-related neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
RS1694360411 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1694363292 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1694364224 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1694365276 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1694365826 WDPCP Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1694365908 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1694367021 BARD1 Health Risk Pathogenic —
RS1694373057 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1694376599 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1694399198 SATB1 Health Risk Pathogenic/Likely pathogenic Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like
RS16944 IL1B Health Risk association Antisynthetase syndrome, Antisynthetase syndrome
RS1694404041 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS1694436267 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1694436631 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1694489284 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1694492790 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1694523513 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1694527909 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1694530382 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1694593071 GMPPA Health Risk Pathogenic Alacrima, achalasia
RS1694624512 ABCB11 Health Risk Likely pathogenic ABCB11-related disorder, ABCB11-related disorder
RS1694759979 CUL3 Health Risk Pathogenic Neurodevelopmental disorder without autism with seizures, Neurodevelopmental disorder without autism with seizures
RS1694788127 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1694789584 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Glioma susceptibility 1
RS1694823880 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1694866812 SMARCAL1 Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1694933681 CRYGD Health Risk Likely pathogenic —
RS1694934695 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1694939675 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1694946023 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1694947319 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1694948749 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1694949382 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1694968440 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1694972567 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1694972839 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1694981227 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1694982551 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1694983227 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Malignant tumor of breast
RS1694984038 BARD1 Health Risk Pathogenic Gastric cancer, Familial cancer of breast
RS1694987168 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1694989668 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1695009134 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1695014214 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1695015277 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1695019560 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1695020358 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1695029110 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1695081736 GRM7 Health Risk Pathogenic Neurodevelopmental disorder with seizures, hypotonia
RS1695110759 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS16951352 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS1695163023 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS1695251013 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1695251731 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1695259740 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1695289576 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1695315646 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1695335992 PAX3 Health Risk Likely pathogenic —
RS1695336858 PAX3 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Waardenburg syndrome type 1
RS1695337485 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1695346408 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1695348814 RYR2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1695349832 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1695358851 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1695363148 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1695369774 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1695370663 FMNL2 Health Risk Likely pathogenic Crohn disease, Crohn disease
RS1695418522 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1695435412 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS169548 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1695551164 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1695562119 XPC Health Risk Pathogenic —
RS1695567474 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1695569595 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS1695570324 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1695570524 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum
RS16955859 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, AIPL1-related disorder
RS1695586409 SLC19A3 Health Risk Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1695594361 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1695634838 TTN Health Risk Likely pathogenic Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy
RS1695680859 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS1695682618 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS1695684357 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS1695788718 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1695792091 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1695802877 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1695848013 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS1695851413 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS1695858904 SATB1 Health Risk Likely pathogenic Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like
RS1695870572 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1695875453 DIS3L2 Health Risk Likely pathogenic DIS3L2-related disorder, DIS3L2-related disorder
RS1695913328 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS1695931094 PNPT1 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
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