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
RS1595897345 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1595898030 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1595898055 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1595898078 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1595899478 RAPSN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS1595900104 SLC51B Health Risk Likely pathogenic Cholestasis, Diarrhea
RS1595902947 RAPSN Health Risk Likely pathogenic Congenital myasthenic syndrome 11, Congenital myasthenic syndrome 11
RS1595903667 RAPSN Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS1595904430 SIN3A Health Risk Likely pathogenic —
RS1595907762 SIN3A Health Risk Pathogenic —
RS1595908479 DMXL2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 81
RS1595923494 KNL1 Health Risk Likely pathogenic —
RS1595928075 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1595935001 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1595935759 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1595938132 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1595939517 TTC8 Health Risk Likely pathogenic Bardet-Biedl syndrome 8, Retinitis pigmentosa 51
RS1595940058 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1595940106 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1595941653 SMAD3 Health Risk Pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS1595941823 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS1595941909 SMAD3 Health Risk Likely pathogenic —
RS1595942351 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1595945118 KNL1 Health Risk Likely pathogenic —
RS1595945569 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1595952313 DNAAF4;DNAAF4-CCPG1 Health Risk Likely pathogenic Dyslexia, susceptibility to
RS1595955503 DMXL2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 81
RS1595956148 NR2E3 Health Risk Pathogenic —
RS1595956416 SMAD3 Health Risk Pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS1595956455 NR2E3 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1595956538 SMAD3 Health Risk Pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS1595956573 SMAD3 Health Risk Likely pathogenic —
RS1595956595 NR2E3 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1595956702 NR2E3 Health Risk Pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS1595956832 SMAD3 Health Risk Likely pathogenic Ascending aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1595957521 NR2E3 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1595959305 TTC8 Health Risk Likely pathogenic Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 8
RS1595959849 DNAAF4 Health Risk Likely pathogenic —
RS1595960347 SMAD3 Health Risk Pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS1595960447 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
RS1595962708 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS1595965925 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1595965945 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1595965957 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1595993043 ARNT2 Health Risk Likely pathogenic Webb-Dattani syndrome, Webb-Dattani syndrome
RS1596016716 DMXL2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 81
RS1596017653 TRPM1 Health Risk Likely pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS1596021185 ARNT2 Health Risk Pathogenic Webb-Dattani syndrome, Webb-Dattani syndrome
RS1596029830 TRPM1 Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1596047883 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS1596048227 WDR73 Health Risk Conflicting classifications of pathogenicity Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS1596050243 WDR73 Health Risk Pathogenic —
RS1596050297 WDR73 Health Risk Pathogenic Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS1596050386 WDR73 Health Risk Pathogenic Dystonic disorder, Dystonic disorder
RS1596050605 WDR73 Health Risk Pathogenic —
RS1596057578 WDR73 Health Risk Pathogenic Seizure, Dyskinesia
RS1596073421 CHRNA3 Health Risk Pathogenic Urinary bladder, atony of
RS1596088812 MAPKBP1 Health Risk Likely pathogenic Nephronophthisis 20, Nephronophthisis 20
RS1596106023 UBR1 Health Risk Pathogenic Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS1596118528 UBR1 Health Risk Pathogenic Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS1596128699 ACAN Health Risk Likely pathogenic Osteochondritis dissecans, Osteochondritis dissecans
RS1596130811 ACAN Health Risk Conflicting classifications of pathogenicity —
RS1596136784 ACAN Health Risk Pathogenic —
RS1596144242 ACAN Health Risk Pathogenic Osteochondritis dissecans, Osteochondritis dissecans
RS1596149339 ALPK3 Health Risk Pathogenic —
RS1596154534 MESP2 Health Risk Pathogenic —
RS1596155145 ALPK3 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic 27
RS1596155634 ALPK3 Health Risk Pathogenic —
RS1596157044 ALPK3 Health Risk Likely pathogenic —
RS1596158382 ALPK3 Health Risk Likely pathogenic —
RS1596166524 AP3B2 Health Risk Pathogenic/Likely pathogenic —
RS1596182118 AP3B2 Health Risk Pathogenic —
RS1596183293 AP3B2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 48
RS1596184582 RLBP1 Health Risk Pathogenic —
RS1596185276 RLBP1 Health Risk Pathogenic —
RS1596194950 DLL4 Health Risk Likely pathogenic Adams-Oliver syndrome 6, Adams-Oliver syndrome 6
RS1596199137 HERC2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS1596206474 UNC45A Health Risk Likely pathogenic Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome
RS1596207451 HERC2 Health Risk Likely pathogenic Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability
RS1596214066 IGF1R Health Risk Likely pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS1596214576 IGF1R Health Risk Pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS1596216178 NTHL1 Health Risk Conflicting classifications of pathogenicity —
RS1596218041 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1596218695 ETFA Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1596218981 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1596219238 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1596219393 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS1596219422 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1596220242 NTHL1 Health Risk Likely pathogenic —
RS1596220332 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS1596220365 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1596220478 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS1596220502 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1596221020 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1596222596 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS1596222612 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1596223211 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1596223384 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS1596223715 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1596223773 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
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