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
RS2107939877 UBA5 Health Risk Pathogenic —
RS2107943571 PDHB Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2107943727 UBA5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 44
RS2107950178 UBA5 Health Risk Pathogenic —
RS2107951359 CLRN1 Health Risk Pathogenic —
RS2107952051 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS2107961294 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2107963367 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2107963405 NPHP3 Health Risk Likely pathogenic Enlarged kidney, Multiple renal cysts
RS2107971687 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2107974557 NPHP3 Health Risk Likely pathogenic Enlarged kidney, Multiple renal cysts
RS2107974888 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS2107975487 AGTR1 Health Risk Likely pathogenic Essential hypertension, genetic
RS2107975850 AGTR1 Health Risk Likely pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS2107976854 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2107977736 ARL6 Health Risk Pathogenic Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS2107990671 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2107994263 ZIC1 Health Risk Likely pathogenic Structural brain anomalies with impaired intellectual development and craniosynostosis, Structural brain anomalies with impaired intellectual development and craniosynostosis
RS2107996325 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2107996885 CLRN1 Health Risk Pathogenic —
RS2108006223 MYLK Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 7
RS2108007892 NPHP3 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2108008280 NPHP3 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2108009356 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Leigh syndrome
RS2108009467 GFM1 Health Risk Pathogenic —
RS2108009622 GFM1 Health Risk Pathogenic —
RS2108010958 PLOD2 Health Risk Pathogenic —
RS2108010991 PLOD2 Health Risk Pathogenic —
RS2108014903 PLCH1 Health Risk Pathogenic Holoprosencephaly 14, Holoprosencephaly 14
RS2108016910 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2108017010 GFM1 Health Risk Pathogenic —
RS2108018519 GFM1 Health Risk Likely pathogenic —
RS2108023364 GFM1 Health Risk Pathogenic —
RS2108033397 ATP6V1A Health Risk Likely pathogenic Encephalopathy, Developmental and epileptic encephalopathy 93
RS2108034196 ATP6V1A Health Risk Pathogenic Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93
RS2108035368 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS2108035416 GFM1 Health Risk Pathogenic —
RS2108035662 GFM1 Health Risk Pathogenic —
RS2108041578 SLCO2A1 Health Risk Pathogenic —
RS2108043577 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS2108044392 GFM1 Health Risk Pathogenic —
RS2108045784 SLCO2A1 Health Risk Likely pathogenic Hypertrophic osteoarthropathy, primary
RS2108045848 SLCO2A1 Health Risk Likely pathogenic Hypertrophic osteoarthropathy, primary
RS2108051038 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2108053298 GFM1 Health Risk Pathogenic —
RS2108053490 GFM1 Health Risk Pathogenic —
RS2108053962 ARL6 Health Risk Likely pathogenic Abnormality of the eye, Retinitis pigmentosa 55
RS2108057452 PLOD2 Health Risk Pathogenic Bruck syndrome 2, Bruck syndrome 2
RS2108073043 ROBO1 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS2108083606 ZBTB20 Health Risk Likely pathogenic Primrose syndrome, Primrose syndrome
RS2108086458 ELP6 Health Risk Likely pathogenic —
RS2108101855 IFT122 Health Risk Likely pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2108102423 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2108102433 GFM1 Health Risk Pathogenic —
RS2108102670 GFM1 Health Risk Pathogenic —
RS2108111799 HPS3 Health Risk Pathogenic —
RS2108112355 MYLK Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 7
RS2108112398 HPS3 Health Risk Pathogenic —
RS2108112449 HPS3 Health Risk Pathogenic —
RS2108112474 HPS3 Health Risk Pathogenic —
RS2108127087 SI Health Risk Pathogenic —
RS2108127602 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108127864 HPS3 Health Risk Pathogenic —
RS2108127935 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108128051 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2108128131 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108128163 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108128892 HPS3 Health Risk Pathogenic —
RS2108128944 HPS3 Health Risk Pathogenic —
RS2108129745 HPS3 Health Risk Likely pathogenic —
RS2108129931 HPS3 Health Risk Pathogenic —
RS2108129996 HPS3 Health Risk Pathogenic —
RS2108130124 HPS3 Health Risk Pathogenic —
RS2108137253 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2108138101 HPS3 Health Risk Pathogenic —
RS2108144374 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2108144496 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108146606 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108146615 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2108146780 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2108146835 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2108146990 HPS3 Health Risk Pathogenic —
RS2108147274 HPS3 Health Risk Likely pathogenic —
RS2108148749 ADCY5 Health Risk Pathogenic Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
RS2108152614 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2108152647 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2108155359 HPS3 Health Risk Pathogenic —
RS2108157679 PLOD2 Health Risk Pathogenic Bruck syndrome 2, Bruck syndrome 2
RS2108158577 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2108168417 HPS3 Health Risk Pathogenic —
RS2108170158 HPS3 Health Risk Likely pathogenic —
RS2108173648 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2108175642 SI Health Risk Likely pathogenic —
RS2108182082 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2108182735 TERC Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS2108182738 TERC Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS2108183105 TERC Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2108183177 SI Health Risk Likely pathogenic —
RS2108183267 TERC Health Risk Likely pathogenic TERC-related disorder, TERC-related disorder
RS2108183554 TERC Health Risk Likely pathogenic —
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