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
RS1962537574 SMAD3 Health Risk Conflicting classifications of pathogenicity Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS1962538901 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS1962580119 MMP2 Health Risk Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS1962591629 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS1962602493 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1962602688 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1962628992 COL4A4 Health Risk Pathogenic Chronic kidney disease, Autosomal recessive Alport syndrome
RS1962651394 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS1962955145 COQ7 Health Risk Likely pathogenic Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8
RS1962974502 FA2H Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1962978296 FA2H Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1962978958 FA2H Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 35
RS1963032146 SCNN1B Health Risk Pathogenic —
RS1963050712 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS1963178887 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1963180892 SMAD3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Thoracic aortic aneurysm or dissection
RS1963213617 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, Inborn genetic diseases
RS1963248804 USB1 Health Risk Pathogenic —
RS1963314793 COG7 Health Risk Pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS1963331116 SMAD3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1963334285 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1963334413 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1963370785 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1963371063 LAMA3 Health Risk Pathogenic —
RS1963372273 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1963379793 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1963392922 COL4A4 Health Risk Pathogenic Alport syndrome, Autosomal recessive Alport syndrome
RS1963393226 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS1963402519 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1963420059 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1963445391 PARN Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 6
RS1963449829 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiomyopathy
RS1963456518 ATP2A1 Health Risk Pathogenic/Likely pathogenic Brody myopathy, Brody myopathy
RS1963459711 COG7 Health Risk Pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS1963501754 ALPK3 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic 27
RS1963564019 USB1 Health Risk Likely pathogenic —
RS1963565243 USB1 Health Risk Pathogenic —
RS1963620354 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS1963635852 ALPK3 Health Risk Pathogenic —
RS1963639188 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1963639299 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1963641493 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1963646325 KIF7 Health Risk Pathogenic/Likely pathogenic Multiple epiphyseal dysplasia, Al-Gazali type
RS1963653131 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1963656730 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1963666828 COG7 Health Risk Pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS1963758780 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS1963835517 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome
RS1963867873 ALPK3 Health Risk Pathogenic —
RS1963874583 ALPK3 Health Risk Pathogenic —
RS1963877282 NUP93 Health Risk Likely pathogenic —
RS1963877824 ALPK3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1963883799 COL4A4 Health Risk Likely pathogenic —
RS1963884904 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1963887200 COL4A4 Health Risk Conflicting classifications of pathogenicity COL4A4-related disorder, Alport syndrome
RS1963891093 ALPK3 Health Risk Pathogenic —
RS1963891935 ALPK3 Health Risk Pathogenic —
RS1963898125 ALPK3 Health Risk Pathogenic —
RS1963907888 COL4A4 Health Risk Pathogenic —
RS1963937785 KIF7 Health Risk Likely pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS1964000214 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1964001995 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1964065704 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS1964095605 ATP2A1 Health Risk Likely pathogenic Brody myopathy, ATP2A1-related disorder
RS1964105013 ATP2A1 Health Risk Likely pathogenic Brody myopathy, Brody myopathy
RS1964119065 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS1964121186 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS1964134678 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1964154734 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1964155109 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1964237631 ALG9 Health Risk Likely pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS1964267396 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS1964269329 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS1964318459 SLC12A3 Health Risk Pathogenic —
RS1964322654 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1964333023 PLIN1 Health Risk Pathogenic PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy
RS1964403206 CIT Health Risk Likely pathogenic Microcephaly 17, primary
RS1964413369 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1964413705 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS1964467589 AAGAB Health Risk Pathogenic —
RS1964520477 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis
RS1964523180 TK2 Health Risk Pathogenic/Likely pathogenic Mitochondrial disease, Mitochondrial DNA depletion syndrome
RS1964531402 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS1964531867 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1964549329 RPGRIP1L Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1964549409 RPGRIP1L Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1964558577 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1964561986 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1964569500 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1964662122 TK2 Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS1964674209 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1964676419 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1964676925 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1964759975 CD19 Health Risk Pathogenic —
RS1964866367 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1965024310 TK2 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome, myopathic form
RS1965109135 TK2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, myopathic form
RS1965287605 EARS2 Health Risk Pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS1965289455 EARS2 Health Risk Pathogenic —
RS1965305721 TK2 Health Risk Conflicting classifications of pathogenicity —
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