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
RS2134823666 SORL1 Health Risk Pathogenic —
RS2134830912 MRE11 Health Risk Pathogenic —
RS2134830919 NPAT Health Risk Conflicting classifications of pathogenicity —
RS2134831001 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS2134834493 NPAT Health Risk Conflicting classifications of pathogenicity —
RS2134836650 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, BBS1-related disorder
RS2134836723 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2134836882 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2134837160 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS2134838763 MNX1 Health Risk Pathogenic —
RS2134838779 MNX1 Health Risk Likely pathogenic Currarino triad, Currarino triad
RS2134838783 MNX1 Health Risk Pathogenic Currarino triad, Currarino triad
RS2134840114 MNX1 Health Risk Likely pathogenic —
RS2134840169 MNX1 Health Risk Pathogenic —
RS2134840569 MRE11 Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1
RS2134841394 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2134842358 COL13A1 Health Risk Pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS2134845306 FERMT3 Health Risk Pathogenic Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS2134845840 MNX1 Health Risk Pathogenic —
RS2134846034 MNX1 Health Risk Pathogenic —
RS2134846165 MNX1 Health Risk Pathogenic Currarino triad, Currarino triad
RS2134846330 MNX1 Health Risk Pathogenic Currarino triad, Currarino triad
RS2134846391 MNX1 Health Risk Pathogenic —
RS2134847685 MNX1 Health Risk Pathogenic —
RS2134854631 HMBS Health Risk Likely pathogenic —
RS2134854656 HMBS Health Risk Pathogenic —
RS2134854665 HMBS Health Risk Pathogenic —
RS2134856747 HMBS Health Risk Pathogenic —
RS2134856824 HMBS Health Risk Pathogenic —
RS2134858145 SORL1 Health Risk risk factor Alzheimer disease 9, Alzheimer disease 9
RS2134859037 HMBS Health Risk Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS2134859316 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS2134862487 HMBS Health Risk Pathogenic —
RS2134862558 HMBS Health Risk Likely pathogenic —
RS2134862738 HMBS Health Risk Pathogenic —
RS2134865264 HMBS Health Risk Pathogenic —
RS2134865826 HMBS Health Risk Pathogenic —
RS2134871639 HMBS Health Risk Pathogenic —
RS2134872053 HMBS Health Risk Likely pathogenic —
RS2134876482 HMBS Health Risk Pathogenic —
RS2134876594 HMBS Health Risk Pathogenic/Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS2134878857 HMBS Health Risk Pathogenic —
RS2134878870 HMBS Health Risk Pathogenic —
RS2134880586 FERMT3 Health Risk Pathogenic Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS2134882159 HMBS Health Risk Pathogenic —
RS2134883951 HMBS Health Risk Pathogenic/Likely pathogenic —
RS2134884322 HMBS Health Risk Pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS2134885195 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2134885452 HMBS Health Risk Pathogenic —
RS2134885529 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS2134885669 HMBS Health Risk Pathogenic —
RS2134885779 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS2134885911 HMBS Health Risk Pathogenic —
RS2134888290 PGM2L1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, dysmorphic facies
RS2134892263 SDHAF2 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2134892271 SDHAF2 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS2134892531 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS2134892557 SDHAF2 Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2134892844 SDHAF2 Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 2, Pheochromocytoma/paraganglioma syndrome 2
RS2134893308 SORL1 Health Risk Pathogenic —
RS2134896978 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS2134898234 DPAGT1 Health Risk Likely pathogenic Congenital myasthenic syndrome 13, Congenital myasthenic syndrome 13
RS2134901573 DPAGT1 Health Risk Pathogenic DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS2134901685 PCDH15 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2134903748 DPAGT1 Health Risk Likely pathogenic DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS2134903776 FERMT3 Health Risk Pathogenic Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS2134904455 PCDH15 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2134908680 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2134910617 DPAGT1 Health Risk Likely pathogenic DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS2134916397 DDB1 Health Risk Pathogenic White-Kernohan syndrome, White-Kernohan syndrome
RS2134919748 DPAGT1 Health Risk Pathogenic DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS2134921669 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS2134922671 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2134925431 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group C
RS2134934938 DDB1 Health Risk Likely pathogenic White-Kernohan syndrome, White-Kernohan syndrome
RS2134935097 DDB1 Health Risk Pathogenic White-Kernohan syndrome, White-Kernohan syndrome
RS2134935103 DDB1 Health Risk Conflicting classifications of pathogenicity White-Kernohan syndrome, White-Kernohan syndrome
RS2134949827 CTSF Health Risk Likely pathogenic See cases, See cases
RS2134950483 CTSF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder
RS2134951897 CTSF Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2134954582 CTSF Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2134954887 CTSF Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13
RS2134963520 PGM2L1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, dysmorphic facies
RS2134965356 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2134965481 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2134967046 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2134967717 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2134968283 FANCC Health Risk Pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS2134968489 EXT2 Health Risk Pathogenic —
RS2134968744 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2134969994 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS2134971478 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2134971524 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2134971964 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2134978631 IL10RA;LOC130006833 Health Risk Likely pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS2134978784 DKK3 Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2134979684 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS2134984550 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2134984829 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2134985142 EXT2 Health Risk Pathogenic Exostoses, multiple
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