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
RS1598737976 GATA6 Health Risk Pathogenic Atrioventricular septal defect 5, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
RS1598738032 GATA6 Health Risk Likely pathogenic Atypical coarctation of aorta, Atypical coarctation of aorta
RS1598738369 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1598738720 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1598742418 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS1598749661 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1598749984 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS1598751507 GREB1L Health Risk association Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
RS1598758001 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1598769185 GREB1L Health Risk association Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
RS1598802389 SMAD2 Health Risk Pathogenic —
RS1598806177 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1598809697 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1598809747 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1598810829 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
RS1598810954 LOXHD1 Health Risk Pathogenic —
RS1598811348 DSG2 Health Risk Likely pathogenic —
RS1598811394 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS1598815016 HNF1B Health Risk Pathogenic/Likely risk allele Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1598820805 AFG3L2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS1598820860 AFG3L2 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS1598825313 AFG3L2 Health Risk Pathogenic —
RS1598826658 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS1598827107 LOXHD1 Health Risk Pathogenic —
RS1598827506 LOXHD1 Health Risk Pathogenic/Likely pathogenic Hearing impairment, Hearing impairment
RS1598832526 AFG3L2 Health Risk Pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS1598832568 AFG3L2 Health Risk Likely pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS1598833532 AFG3L2 Health Risk Likely pathogenic —
RS1598840773 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1598840795 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1598840811 MYO5B Health Risk Likely pathogenic —
RS1598840996 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1598841082 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1598842886 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1598842892 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1598844112 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS1598844184 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS1598844187 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS1598844213 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS1598845097 TTR Health Risk Likely pathogenic Cardiovascular phenotype, Amyloidosis
RS1598845111 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS1598845164 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS1598848672 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1598848762 HNF1B Health Risk Conflicting classifications of pathogenicity Hyperuricemic nephropathy, familial juvenile type 3
RS1598854261 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1598854747 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1598859662 GREB1L Health Risk association Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
RS1598870169 MYO5B Health Risk Pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS1598895511 TMC8 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1598909288 PNPLA8 Health Risk Likely pathogenic Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome
RS1598909510 LOXHD1 Health Risk Pathogenic —
RS1598909650 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1598914701 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1598923748 TMC8 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1598937493 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1598940393 TLK2 Health Risk Pathogenic Intellectual disability, autosomal dominant 57
RS1598940661 TLK2 Health Risk Likely pathogenic —
RS1598942578 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1598947815 GREB1L Health Risk association Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
RS1598954455 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1598958721 GREB1L Health Risk association Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
RS1598958773 GREB1L Health Risk association Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
RS1598982483 CDH2 Health Risk Pathogenic/Likely pathogenic Axon pathfinding, cardiac
RS1598982488 CDH2 Health Risk Pathogenic/Likely pathogenic Axon pathfinding, cardiac
RS1598996309 FECH Health Risk Pathogenic Protoporphyria, erythropoietic
RS1599001947 LOXHD1 Health Risk Pathogenic —
RS1599003455 FECH Health Risk Likely pathogenic Protoporphyria, erythropoietic
RS1599010918 CDH2 Health Risk Pathogenic/Likely pathogenic Axon pathfinding, cardiac
RS1599011050 CDH2 Health Risk Pathogenic/Likely pathogenic Axon pathfinding, cardiac
RS1599011473 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1599017933 CDH2 Health Risk Likely pathogenic Axon pathfinding, cardiac
RS1599034650 LOXHD1 Health Risk Pathogenic —
RS1599035715 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1599040620 LOXHD1 Health Risk Likely pathogenic —
RS1599044870 BPTF Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS1599066459 ATP8B1 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS1599069873 ATP8B1 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS1599082889 LAMA3 Health Risk Likely pathogenic —
RS1599083635 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1599091162 LAMA3 Health Risk Likely pathogenic —
RS1599121619 LAMA3 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS1599137041 APC2 Health Risk Pathogenic Cortical dysplasia, complex
RS1599142041 ACE Health Risk Pathogenic Hereditary angioedema with normal C1Inh, Microvascular complications of diabetes
RS1599143221 ACE Health Risk Pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS1599150380 RNF213 Health Risk Likely pathogenic Moyamoya disease 2, Moyamoya disease 2
RS1599155642 APC2 Health Risk Pathogenic Cortical dysplasia, complex
RS1599166106 ATP8B1 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS1599166793 APC2 Health Risk Pathogenic Cortical dysplasia, complex
RS1599181081 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1599181251 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1599181806 LAMA3 Health Risk Pathogenic —
RS1599182364 SMAD4 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS1599182375 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1599182571 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1599182586 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1599182906 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1599187076 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1599189454 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1599189560 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1599189646 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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