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
RS121909082 ROR2 Health Risk Pathogenic Brachydactyly type B1, Brachydactyly type B1
RS121909083 ROR2 Health Risk Pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS121909084 ROR2 Health Risk Likely pathogenic Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS121909085 ROR2 Health Risk Pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS121909086 ROR2 Health Risk Pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS121909087 ROR2 Health Risk Pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS121909088 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, dominant intermediate B
RS121909089 DNM2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Centronuclear myopathy
RS121909090 DNM2 Health Risk Pathogenic Autosomal dominant centronuclear myopathy, Centronuclear myopathy
RS121909091 DNM2 Health Risk Pathogenic Autosomal dominant centronuclear myopathy, Centronuclear myopathy
RS121909092 DNM2 Health Risk Pathogenic Autosomal dominant centronuclear myopathy, Centronuclear myopathy
RS121909093 DNM2 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Charcot-Marie-Tooth disease type 2M, Charcot-Marie-Tooth disease
RS121909094 DNM2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Charcot-Marie-Tooth disease type 2M, Charcot-Marie-Tooth disease
RS121909095 DNM2 Health Risk Pathogenic Severe X-linked myotubular myopathy, Centronuclear myopathy
RS121909098 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS121909099 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS121909100 ATP8B1 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS121909101 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder
RS121909103 ATP8B1 Health Risk Pathogenic Cholestasis, intrahepatic
RS121909104 ATP8B1 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS121909105 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, Familial intrahepatic cholestasis type 1
RS121909106 FOXC2 Health Risk Likely pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS121909107 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS121909109 PITX1 Health Risk Pathogenic Clubfoot, Clubfoot
RS121909110 ESRRB Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS121909111 ESRRB Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS121909112 HSPB1 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS121909113 HSPB1 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS121909114 ECM1 Health Risk Pathogenic Lipid proteinosis, Lipid proteinosis
RS121909115 ECM1 Health Risk Pathogenic Lipid proteinosis, Lipid proteinosis
RS121909116 ECM1 Health Risk Likely pathogenic Lipid proteinosis, Lipid proteinosis
RS121909117 SOX10 Health Risk Pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS121909118 SCARB2 Health Risk Pathogenic Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy
RS121909119 SCARB2 Health Risk Pathogenic Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome
RS121909120 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Severe intellectual deficiency
RS121909121 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Malignant tumor of esophagus
RS121909122 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Corneal dystrophy
RS121909123 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS121909124 GUCA1B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 48, Retinal dystrophy
RS121909127 RAX Health Risk Pathogenic Isolated microphthalmia 3, Isolated microphthalmia 3
RS121909128 RAX Health Risk Pathogenic Isolated microphthalmia 3, Isolated microphthalmia 3
RS121909129 KRT86 Health Risk Pathogenic Monilethrix, Monilethrix
RS121909130 KRT86 Health Risk Pathogenic Monilethrix, Monilethrix
RS121909131 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 3
RS121909132 CLCNKB Health Risk Pathogenic/Likely pathogenic Bartter disease type 3, Bartter disease type 4B
RS121909133 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 4B
RS121909134 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 3
RS121909135 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 3
RS121909136 CLCNKB Health Risk Pathogenic Bartter syndrome, type 3
RS121909137 CLCNKA Health Risk Pathogenic Bartter disease type 4B, Bartter disease type 4B
RS121909138 CLCNKA Health Risk Pathogenic Bartter disease type 4B, Bartter disease type 4B
RS121909139 KLF6 Health Risk Pathogenic Prostate cancer, somatic
RS121909140 KLF6 Health Risk Pathogenic Prostate cancer, somatic
RS121909141 KLF6 Health Risk Pathogenic Prostate cancer, somatic
RS121909142 KLF6 Health Risk Pathogenic Prostate cancer, somatic
RS121909143 KLF6 Health Risk Pathogenic Prostate cancer, somatic
RS121909144 KLF6 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS121909145 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS121909146 SH3BP2 Health Risk Pathogenic Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
RS121909149 SH3BP2 Health Risk Pathogenic Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
RS121909151 PEX7 Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS121909152 PEX7 Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS121909153 PEX7 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS121909154 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
RS121909174 SLC5A5 Health Risk Pathogenic Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS121909175 SLC5A5 Health Risk Pathogenic Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS121909176 SLC5A5 Health Risk Likely pathogenic Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS121909177 SLC5A5 Health Risk Pathogenic Thyroid dyshormonogenesis 1, SLC5A5-related disorder
RS121909178 SLC5A5 Health Risk Pathogenic Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS121909179 SLC5A5 Health Risk Pathogenic Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS121909180 SLC5A5 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 1, Congenital hypothyroidism
RS121909181 ABCA3 Health Risk Pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS121909182 ABCA3 Health Risk Pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS121909183 ABCA3 Health Risk Pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS121909184 ABCA3 Health Risk Pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS121909186 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS121909187 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS121909188 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS121909189 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, Saethre-Chotzen syndrome
RS121909190 TWIST1 Health Risk Pathogenic TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS121909192 SMN2 Health Risk Conflicting classifications of pathogenicity Spinal muscular atrophy, modifier of
RS121909193 MYOC Health Risk Pathogenic Glaucoma 1, open angle
RS121909194 MYOC Health Risk Likely pathogenic Glaucoma 1, open angle
RS121909195 EYA1 Health Risk Pathogenic Branchiootorenal syndrome 1, Rare genetic deafness
RS121909196 EYA1 Health Risk Pathogenic/Likely pathogenic Branchiootorenal syndrome 1, Rare genetic deafness
RS121909197 EYA1 Health Risk Pathogenic Anterior segment anomalies and cataract, Anterior segment anomalies and cataract
RS121909198 EYA1 Health Risk Pathogenic Abnormal anterior chamber morphology, Abnormal anterior chamber morphology
RS121909199 EYA1 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome with cataract, Otofaciocervical syndrome 1
RS121909200 EYA1 Health Risk Pathogenic Branchiootorenal syndrome 1, Melnick-Fraser syndrome
RS121909201 EYA1 Health Risk Pathogenic Branchiootorenal syndrome 1, Branchiootorenal syndrome 1
RS121909202 EYA1 Health Risk Pathogenic Branchiootic syndrome 1, Branchiootorenal syndrome 1
RS121909205 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS121909206 ABCA4 Health Risk Pathogenic Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy
RS121909207 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS121909208 TGFBI Health Risk Pathogenic Groenouw corneal dystrophy type I, 7 conditions
RS121909209 TGFBI Health Risk Pathogenic Thiel-Behnke corneal dystrophy, Thiel-Behnke corneal dystrophy
RS121909210 TGFBI Health Risk Pathogenic Lattice corneal dystrophy Type I, Epithelial-stromal TGFBI dystrophy
RS121909211 TGFBI Health Risk Pathogenic Avellino corneal dystrophy, Reis-Bucklers' corneal dystrophy
RS121909212 TGFBI Health Risk Pathogenic/Likely pathogenic Corneal dystrophy, lattice type 3A
RS121909214 TGFBI Health Risk Pathogenic Corneal dystrophy, lattice type 3A
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