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
RS1713844994 CLRN1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3, Usher syndrome type 3
RS1713859321 CLRN1 Health Risk Pathogenic —
RS1713861377 CLRN1 Health Risk Likely pathogenic Usher syndrome type 3, Retinitis pigmentosa 61
RS1713866822 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1713910885 SI Health Risk Pathogenic/Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1714102462 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1714132239 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1714177959 SI Health Risk Pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1714268814 SLC34A2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1714292732 GNB4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F
RS1714299831 SI Health Risk Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1714390786 THPO Health Risk Likely pathogenic Thrombocythemia 1, Thrombocythemia 1
RS1714397896 THPO Health Risk Pathogenic Thrombocythemia 1, Thrombocythemia 1
RS1714398710 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1714412021 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1714508262 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS1714533252 GYG1 Health Risk Pathogenic Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS1714586913 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1714622835 MASP1 Health Risk Pathogenic 3MC syndrome 1, 3MC syndrome 1
RS1714655118 GYG1 Health Risk Pathogenic Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS1714725151 OPA1 Health Risk Pathogenic —
RS1714775017 DVL3 Health Risk Likely pathogenic —
RS1714805406 GNB4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F
RS1714806751 DNAJC19 Health Risk Likely pathogenic —
RS1714831656 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714833474 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714837282 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714839412 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714842576 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714843059 SOX2 Health Risk Likely pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714847764 SOX2 Health Risk Likely pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714848271 LOC108281177;SOX2;SOX2-OT Health Risk Pathogenic —
RS1714851160 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714858949 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714861042 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714861435 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714864777 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714865486 SOX2 Health Risk Likely pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714875635 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714882477 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714883683 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714883776 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1714910248 GNB4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F
RS1714943416 SI Health Risk Pathogenic —
RS1715007577 DNAJC19 Health Risk Pathogenic 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
RS1715035049 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715068106 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715069355 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715076004 TBL1XR1 Health Risk Likely pathogenic —
RS1715084294 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715086540 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715086654 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis
RS1715096917 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715100386 TBL1XR1 Health Risk Likely pathogenic Pierpont syndrome, Pierpont syndrome
RS1715105181 TBL1XR1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 41
RS1715120049 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS1715120552 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715120665 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715123409 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715144653 IDUA Health Risk Pathogenic —
RS1715175636 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715178056 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS1715179164 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715182989 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1715188461 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715210316 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715210435 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS1715216061 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715218377 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715233169 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715237631 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715248390 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715262294 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715290919 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715293163 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1715297 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Inborn genetic diseases
RS1715314710 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS17153575 UROS Health Risk Conflicting classifications of pathogenicity Cutaneous porphyria, Cutaneous porphyria
RS1715390589 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS17154282 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS1715435004 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS17154362 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1715453232 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1715495987 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1715552187 RAB28 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Cone-rod dystrophy
RS1715585498 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1715589813 CLRN1 Health Risk Pathogenic Usher syndrome type 3A, Usher syndrome
RS1715594024 CLRN1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Neuronal ceroid lipofuscinosis
RS1715768907 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1715829134 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1715829691 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS17158558 RET Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS1716182863 OPA1 Health Risk Pathogenic —
RS1716297832 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1716303868 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1716383227 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1716457622 TBL1XR1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 41
RS1716460260 TBL1XR1 Health Risk Likely pathogenic —
RS1716484744 TBL1XR1 Health Risk Likely pathogenic Pierpont syndrome, Pierpont syndrome
RS1716487985 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
« Prev 1 ... 1200 1201 1202 1203 1204 1205 1206 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →