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
RS1703727528 NPRL2 Health Risk Likely pathogenic —
RS1703742764 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703799803 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS1703800535 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS1703800818 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IV, classic hepatic
RS1703813514 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1703818635 POC1A Health Risk Pathogenic POC1A-related syndrome, POC1A-related syndrome
RS1703876192 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1703920233 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1703956616 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1704151765 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1704195448 EYS Health Risk Pathogenic —
RS1704217868 DNAH1 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1704361187 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1704380780 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1704386838 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS1704426915 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1704477893 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1704527989 PTPN23 Health Risk Likely pathogenic —
RS1704650728 DNAH1 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS1704654934 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1704706313 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS1704746759 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1704763968 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS1704870760 NGLY1 Health Risk Likely pathogenic —
RS1704873196 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1704930969 RPL15 Health Risk Likely pathogenic Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12
RS1704944478 CACNA2D2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1704971986 CACNA2D2 Health Risk Pathogenic Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay
RS1704980243 BAP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1704984916 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705001036 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705010531 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1705011794 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705020085 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1705020162 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1705020428 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705022971 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705029620 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705034559 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705034786 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705036297 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705040186 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1705042101 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705042850 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705043129 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705043802 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705045724 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1705049633 BAP1 Health Risk Pathogenic —
RS1705050172 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705050256 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705082679 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705109191 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1705109295 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705111517 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705111763 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705115631 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705120040 BAP1 Health Risk Conflicting classifications of pathogenicity Uveal melanoma, BAP1-related tumor predisposition syndrome
RS1705122612 PTPN23 Health Risk Conflicting classifications of pathogenicity —
RS1705139320 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705153387 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705153755 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705155794 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705157079 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705170374 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1705177318 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1705180420 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705194837 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705195086 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705195392 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1705196773 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705201387 BAP1 Health Risk Likely pathogenic Astrocytoma, Hereditary cancer-predisposing syndrome
RS1705201896 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705203543 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705221702 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705221848 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705222655 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-associated neurodevelopmental disorder, Neurodevelopmental disorder
RS1705228635 PTPN23 Health Risk Pathogenic —
RS1705235390 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705236699 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705237553 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705238769 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705258881 CACNA2D2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1705261594 PTPN23 Health Risk Pathogenic Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS1705277912 CACNA2D2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1705291920 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS17052920 TKT Health Risk Conflicting classifications of pathogenicity Transketolase deficiency, TKT-related disorder
RS1705305535 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1705320930 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1705368893 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1705409477 NGLY1 Health Risk Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1705416478 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1705682545 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1705687680 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1705700724 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1705761854 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS1705762883 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IV, classic hepatic
RS1705777731 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1705781269 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1705798888 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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