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
RS1306490337 CEP135 Health Risk Pathogenic —
RS1306495405 PRF1 Health Risk Pathogenic Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2
RS1306497806 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1306497969 HAX1 Health Risk Conflicting classifications of pathogenicity Kostmann syndrome, Inborn genetic diseases
RS1306499925 EYS Health Risk Pathogenic —
RS1306507591 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1306517572 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1306520020 PLK4 Health Risk Pathogenic —
RS1306558952 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS1306577496 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1306584103 WNT10A Health Risk Pathogenic/Likely pathogenic Tooth agenesis, selective
RS1306586204 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1306593300 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS1306595038 RPGRIP1L Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1306607552 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1
RS1306612236 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1306636942 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS1306655122 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1306678448 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1306678453 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1306680919 KIT Health Risk Likely pathogenic —
RS1306724935 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS1306728898 CDH23 Health Risk Pathogenic Pituitary adenoma 5, multiple types
RS1306732480 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1306740609 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1306742152 SLC34A1 Health Risk Conflicting classifications of pathogenicity SLC34A1-related disorder, SLC34A1-related disorder
RS1306776407 CACNA1E Health Risk Conflicting classifications of pathogenicity CACNA1E-related disorder, CACNA1E-related disorder
RS1306782857 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1306793050 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS1306800890 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1306812632 ANK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Long QT syndrome
RS1306821707 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1306823741 SLC38A8 Health Risk Likely pathogenic —
RS1306842168 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1306874240 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1306875523 SLC34A1 Health Risk Pathogenic —
RS1306876740 TCTN2 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1306891128 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1306918506 SZT2 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS1306944669 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1306952187 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1306957190 SOX11 Health Risk Pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS1306973135 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
RS1306987034 WHRN Health Risk Pathogenic Usher syndrome type 2D, Usher syndrome type 2D
RS1306992119 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Hematuria
RS1307001526 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS1307002115 PPP2R3C Health Risk Pathogenic Gonadal dysgenesis, dysmorphic facies
RS1307026290 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1307026683 ADRA2B Health Risk Likely pathogenic —
RS1307031136 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS1307047144 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1307056903 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1307057213 MYSM1 Health Risk Likely pathogenic —
RS1307064483 CYP11B1 Health Risk Likely pathogenic Congenital adrenal hyperplasia, Deficiency of steroid 11-beta-monooxygenase
RS1307065903 MACF1 Health Risk Likely pathogenic Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation
RS1307080411 NCF1 Health Risk Pathogenic Granulomatous disease, chronic
RS1307084213 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1307108997 ABCA4 Health Risk Pathogenic —
RS1307113234 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1307114004 VPS13A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1307126211 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1307137184 SLC45A2 Health Risk Likely pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS1307143057 WAS Health Risk Conflicting classifications of pathogenicity X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome
RS1307143430 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1307200375 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS1307247907 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS1307253731 ANKZF1 Health Risk Conflicting classifications of pathogenicity —
RS1307270981 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS1307271255 ARID1B Health Risk Pathogenic —
RS1307281520 GYS2 Health Risk Pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS1307312865 ADGRV1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal disorder
RS13073139 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Inborn genetic diseases
RS1307335604 NR0B2 Health Risk Likely pathogenic Inherited obesity, Inherited obesity
RS1307353210 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1307369466 ZP1 Health Risk Pathogenic Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect
RS1307379746 BLK Health Risk Pathogenic Systemic lupus erythematosus, Systemic lupus erythematosus
RS1307380469 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1307396168 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS1307397097 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1307411368 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1307428257 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1307461229 EARS2 Health Risk Likely pathogenic —
RS1307461796 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1307471318 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1307479264 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1307502841 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1307515994 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS1307520072 PCARE Health Risk Pathogenic —
RS1307575374 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1307578363 DDX3X Health Risk Conflicting classifications of pathogenicity X-linked syndromic intellectual disability, X-linked syndromic intellectual disability
RS1307580344 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Muscular dystrophy
RS1307589698 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1307618098 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1307623377 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS1307626649 COL7A1 Health Risk Likely pathogenic —
RS1307665214 SACS Health Risk Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1307665893 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS1307676365 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1307708371 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1307714476 ERCC6 Health Risk Pathogenic DE SANCTIS-CACCHIONE SYNDROME, DE SANCTIS-CACCHIONE SYNDROME
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