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
RS2538889832 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538892559 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538892758 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538892786 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538892861 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538893227 HR Health Risk Pathogenic —
RS2538894012 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538894343 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538894614 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS2538896058 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2538896065 HPS1 Health Risk Likely pathogenic —
RS2538896067 PUF60 Health Risk Pathogenic Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome, Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
RS2538896531 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2538896849 HPS1 Health Risk Pathogenic —
RS2538896927 PUF60 Health Risk Likely pathogenic —
RS2538897097 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538897333 HPS1 Health Risk Pathogenic —
RS2538898004 HPS1 Health Risk Pathogenic —
RS2538898866 HPS1 Health Risk Pathogenic —
RS2538899239 CDK5RAP2 Health Risk Pathogenic —
RS2538900419 CDK5RAP2 Health Risk Pathogenic —
RS2538901222 PLEC Health Risk Likely pathogenic Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex with nail dystrophy
RS2538902394 HPS1 Health Risk Likely pathogenic —
RS2538903245 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538903276 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538903505 HPS1 Health Risk Pathogenic —
RS2538903848 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538904004 HPS1 Health Risk Pathogenic —
RS2538904209 HPS1 Health Risk Pathogenic —
RS2538904613 HPS1 Health Risk Pathogenic —
RS2538904662 SETX Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2538904841 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538905660 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS2538906060 HPS1 Health Risk Likely pathogenic —
RS2538907768 ZMYND11 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS2538908846 BRSK2 Health Risk Likely pathogenic —
RS2538914833 PUF60 Health Risk Likely pathogenic —
RS2538917440 PBX3 Health Risk Likely pathogenic X-linked cone-rod dystrophy, X-linked cone-rod dystrophy
RS2538917443 PBX3 Health Risk Likely pathogenic X-linked cone-rod dystrophy, X-linked cone-rod dystrophy
RS2538919005 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538919605 HPS1 Health Risk Pathogenic —
RS2538920062 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538921516 LGI3 Health Risk Pathogenic —
RS2538921517 SETX Health Risk Likely pathogenic —
RS2538921531 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538927166 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2538927195 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2538927481 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2538930006 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2538930496 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538931345 HPS1 Health Risk Pathogenic —
RS2538931559 HPS1 Health Risk Pathogenic —
RS2538932095 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538934037 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538936163 FBP1 Health Risk Likely pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2538936176 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2538938645 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2538938783 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2538939518 PCDH15 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2538941078 SFTPC Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS2538941518 IKZF1 Health Risk Likely pathogenic Pancytopenia due to IKZF1 mutations, Pancytopenia due to IKZF1 mutations
RS2538943809 SFTPC Health Risk Pathogenic —
RS2538944759 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2538945160 SFTPC Health Risk Pathogenic —
RS2538945227 SFTPC Health Risk Likely pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS2538945704 SFTPC Health Risk Pathogenic —
RS2538945800 SFTPC Health Risk Pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS2538945951 SFTPC Health Risk Likely pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS2538947228 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2538947336 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2538948503 SFTPC Health Risk Likely pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS2538948539 SFTPC Health Risk Pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS2538953353 PLEC Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS2538961463 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS2538965374 SETX Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2538965613 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2538965763 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2538966402 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538967043 HPS1 Health Risk Pathogenic —
RS2538967454 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538968028 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538968247 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538972305 BMP1 Health Risk Likely pathogenic —
RS2538972306 BMP1 Health Risk Likely pathogenic —
RS2538974447 DNM1 Health Risk Likely pathogenic DNM1-related disorder, DNM1-related disorder
RS2538974505 DNM1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 31A
RS2538976137 BMP1 Health Risk Likely pathogenic —
RS2538976145 BMP1 Health Risk Pathogenic —
RS2538976259 DNM1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS2538976726 DNM1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 31B
RS2538979366 DNM1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS2538980290 SETX Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS2538983876 DNM1 Health Risk Pathogenic West syndrome, Lennox-Gastaut syndrome
RS2538984042 DNM1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS2538984991 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS2538985436 BMP1 Health Risk Pathogenic —
RS2538985731 BMP1 Health Risk Pathogenic —
RS2538986887 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538987319 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538989014 OGDHL Health Risk Likely pathogenic Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome
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