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
RS2492867827 ABCC2 Health Risk Pathogenic —
RS2492868058 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492868160 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492869513 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492869740 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492869764 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492869809 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492869931 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492870014 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492872010 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492872237 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492872734 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492873310 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492873622 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492873746 ABCC2 Health Risk Pathogenic —
RS2492873807 ABCC2 Health Risk Pathogenic —
RS2492874992 ABCC2 Health Risk Pathogenic —
RS2492875335 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492875424 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492875907 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492880852 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492881242 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492885730 PDZD7 Health Risk Pathogenic —
RS2492888641 TRIM8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2492892561 PAX2 Health Risk Pathogenic Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS2492892819 PAX2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 7, Focal segmental glomerulosclerosis 7
RS2492892861 PAX2 Health Risk Pathogenic Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS2492893039 PAX2 Health Risk Pathogenic Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS2492893048 PAX2 Health Risk Likely pathogenic PAX2-related disorder, PAX2-related disorder
RS2492893061 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS2492893824 PAX2 Health Risk Pathogenic/Likely pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS2492894330 PDZD7 Health Risk Pathogenic —
RS2492898853 PAX2 Health Risk Pathogenic Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS2492898916 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS2492899088 PAX2 Health Risk Pathogenic Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS2492899586 PAX2 Health Risk Likely pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS2492899996 PAX2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 7, Focal segmental glomerulosclerosis 7
RS2492900237 PAX2 Health Risk Pathogenic Focal segmental glomerulosclerosis 7, Focal segmental glomerulosclerosis 7
RS2492900300 IL11RA Health Risk Pathogenic Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies
RS2492900329 PAX2 Health Risk Likely pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS2492900348 PAX2 Health Risk Pathogenic Congenital ocular coloboma, Congenital ocular coloboma
RS2492900437 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS2492903992 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS2492904557 LGI1 Health Risk Likely pathogenic Inborn genetic diseases, LGI1-related disorder
RS2492905074 ABCC2 Health Risk Pathogenic —
RS2492905351 ABCC2 Health Risk Pathogenic —
RS2492905676 LGI1 Health Risk Likely pathogenic Epilepsy, familial temporal lobe
RS2492905831 LGI1 Health Risk Likely pathogenic Epilepsy, familial temporal lobe
RS2492909379 TRIM8 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome
RS2492911303 IL11RA Health Risk Pathogenic Craniosynostosis syndrome, Craniosynostosis syndrome
RS2492914801 TRIM8 Health Risk Likely pathogenic Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome
RS2492914988 TRIM8 Health Risk Likely pathogenic —
RS2492916342 TRIM8 Health Risk Likely pathogenic Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome
RS2492917776 LGI1 Health Risk Likely pathogenic —
RS2492919720 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS2492919806 ABCC2 Health Risk Likely pathogenic —
RS2492926235 ERLIN1 Health Risk Pathogenic Hereditary spastic paraplegia 62, Hereditary spastic paraplegia 62
RS2492926991 ABCC2 Health Risk Likely pathogenic ABCC2-related disorder, ABCC2-related disorder
RS2492934382 PDZD7 Health Risk Pathogenic —
RS2492943549 PDZD7 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2492954169 BLNK Health Risk Likely pathogenic BLNK-related disorder, BLNK-related disorder
RS2492965035 ABCC2 Health Risk Pathogenic —
RS2492965214 ABCC2 Health Risk Pathogenic —
RS2492965619 ABCC2 Health Risk Pathogenic —
RS2492967168 ABCC2 Health Risk Pathogenic —
RS2492968523 ABCC2 Health Risk Pathogenic —
RS2492968753 ABCC2 Health Risk Likely pathogenic —
RS2492973257 PDZD7 Health Risk Pathogenic —
RS2493011181 ABCC2 Health Risk Likely pathogenic —
RS2493011344 ABCC2 Health Risk Pathogenic —
RS2493011457 ABCC2 Health Risk Pathogenic —
RS2493011773 ABCC2 Health Risk Pathogenic —
RS2493012327 ABCC2 Health Risk Pathogenic —
RS2493018899 ABCC2 Health Risk Pathogenic —
RS2493019052 ABCC2 Health Risk Likely pathogenic —
RS2493023041 ABCC2 Health Risk Pathogenic —
RS2493029666 PAX2 Health Risk Likely pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS2493041468 ABCC2 Health Risk Pathogenic ABCC2-related disorder, ABCC2-related disorder
RS2493041971 ABCC2 Health Risk Pathogenic ABCC2-related disorder, ABCC2-related disorder
RS2493048339 ABCC2 Health Risk Pathogenic —
RS2493048370 ABCC2 Health Risk Pathogenic —
RS2493048479 ABCC2 Health Risk Likely pathogenic —
RS2493052165 PDZD7 Health Risk Likely pathogenic PDZD7-related disorder, PDZD7-related disorder
RS2493052423 PNLIP Health Risk Likely pathogenic —
RS2493054073 PDZD7 Health Risk Pathogenic —
RS2493061190 ABCC2 Health Risk Pathogenic —
RS2493075833 MPDZ Health Risk Likely pathogenic —
RS2493077862 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2493085626 NODAL Health Risk Likely pathogenic Heterotaxy, visceral
RS2493087333 NODAL Health Risk Likely pathogenic NODAL-related disorder, NODAL-related disorder
RS2493088769 HELLS Health Risk Pathogenic —
RS2493095831 NODAL Health Risk Likely pathogenic Heterotaxy, visceral
RS2493096439 NODAL Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS2493101808 SLIT1 Health Risk Likely pathogenic Monomelic amyotrophy, Monomelic amyotrophy
RS2493107869 SMC3 Health Risk Likely pathogenic —
RS2493111001 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2493111036 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2493114413 SMC3 Health Risk Pathogenic SMC3-related disorder, SMC3-related disorder
RS2493117603 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2493126411 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
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