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
RS1751171297 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1751188438 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1751200603 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1751202314 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1751210750 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1751217170 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1751227147 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1751253944 TERT Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1751259223 TERT Health Risk Likely pathogenic Abnormal pulmonary interstitial morphology, Short telomere length
RS1751262771 TERT Health Risk Likely pathogenic Pulmonary fibrosis, Dyskeratosis congenita
RS1751264238 USP53 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS1751271544 TERT Health Risk Conflicting classifications of pathogenicity Abnormal pulmonary interstitial morphology, Pulmonary fibrosis
RS1751289309 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS17514253 F13B Health Risk Conflicting classifications of pathogenicity Factor XIII, b subunit
RS17514281 F13B Health Risk Conflicting classifications of pathogenicity Factor XIII, b subunit
RS1751472744 TERC Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 1
RS1751515079 TERC Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 1
RS1751515631 TERC Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 1
RS1751549898 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome, Febrile seizures
RS1751572548 ADGRV1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1751587092 LMNB1 Health Risk Pathogenic Microcephaly 26, primary
RS1751598318 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1751633228 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1751669303 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1751681202 ARSB Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1751692890 HSD17B4 Health Risk Likely pathogenic Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS1751700395 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1751703312 TGFBI Health Risk Likely pathogenic Thiel-Behnke corneal dystrophy, Thiel-Behnke corneal dystrophy
RS1751797979 LMNB1 Health Risk Pathogenic Microcephaly, Microcephaly
RS1751828398 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1751843672 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1751865973 NDUFS4 Health Risk Pathogenic Developmental regression, Mitochondrial complex I deficiency
RS1751933402 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1751944228 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1751962280 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1751967064 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1751975175 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1752049275 IL6ST Health Risk Likely pathogenic —
RS1752065573 THAP1 Health Risk Pathogenic —
RS1752071425 YIPF5 Health Risk Pathogenic Microcephaly, epilepsy
RS1752133411 YIPF5 Health Risk Pathogenic Microcephaly, epilepsy
RS1752223896 PDE6A Health Risk Pathogenic —
RS1752229268 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1752233376 WDFY3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1752321639 NDUFAF2 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1752323416 NDUFAF2 Health Risk Pathogenic —
RS1752333074 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1752338387 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1752408604 PITX1 Health Risk Likely pathogenic Clubfoot, Clubfoot
RS1752408637 PITX1 Health Risk Likely pathogenic Hurler syndrome, Hurler syndrome
RS1752440697 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1752447161 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1752478598 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1752665099 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1752666026 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1752706120 SPINK5 Health Risk Pathogenic Netherton syndrome, Netherton syndrome
RS1752708600 SPINK5 Health Risk Likely pathogenic Netherton syndrome, Netherton syndrome
RS1752740319 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1752784868 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS1752838269 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1752838447 PDE6A Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 43
RS1752883292 NIPBL Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1752898179 LRBA Health Risk Pathogenic —
RS1752914673 GLRA1 Health Risk Likely pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS1752923333 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Respiratory ciliopathies including non-CF bronchiectasis
RS1752962580 NIPBL Health Risk Pathogenic —
RS1753000062 PCDH1 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS1753002664 GLRA1 Health Risk Likely pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS1753002738 GLRA1 Health Risk Likely pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS1753093650 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1753105092 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1753106609 SLC45A2 Health Risk Pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS1753117321 BLTP1 Health Risk Likely pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS1753129765 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1753131019 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1753137715 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1753188795 SLC45A2 Health Risk Pathogenic —
RS1753199066 NIPBL Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1753203799 NR2F1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1753204589 PCDH12 Health Risk Pathogenic —
RS1753205307 NR2F1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1753206427 PCDH12 Health Risk Pathogenic/Likely pathogenic —
RS1753206907 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1753208096 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1753210329 NR2F1 Health Risk Pathogenic/Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1753210791 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1753211000 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1753211537 PCDH12 Health Risk Likely pathogenic Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1
RS1753211889 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1753212131 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1753213218 NR2F1 Health Risk Conflicting classifications of pathogenicity Bosch-Boonstra-Schaaf optic atrophy syndrome, Inborn genetic diseases
RS1753213365 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1753232409 PDE6A Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 43
RS1753258436 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1753260850 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1753263819 NR2F1 Health Risk Likely pathogenic —
RS1753264180 NR2F1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1753268855 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1753373048 NR2F1 Health Risk Conflicting classifications of pathogenicity Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1753397877 SPINK5 Health Risk Pathogenic Netherton syndrome, Netherton syndrome
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