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
RS2495972526 ERCC6 Health Risk Pathogenic —
RS2495972945 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495973807 ERCC6 Health Risk Pathogenic —
RS2495973867 ERCC6 Health Risk Pathogenic —
RS2495974544 ERCC6 Health Risk Pathogenic —
RS2495974647 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495974734 ERCC6 Health Risk Pathogenic —
RS2495975051 ERCC6 Health Risk Likely pathogenic —
RS2495975869 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS2495977429 FERMT3 Health Risk Likely pathogenic Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS2495978149 ERCC6 Health Risk Pathogenic —
RS2495978266 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495980482 ERCC6 Health Risk Pathogenic —
RS2495980573 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495980701 ERCC6 Health Risk Pathogenic —
RS2495980915 ERCC6 Health Risk Likely pathogenic —
RS2495981397 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2495982356 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2495982495 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2495982812 CLPB Health Risk Pathogenic Neutropenia, severe congenital
RS2495982918 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495982991 ERCC6 Health Risk Pathogenic —
RS2495983908 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2495984482 ERCC6 Health Risk Pathogenic —
RS2495984631 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495984647 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495990286 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2495990477 ERCC6 Health Risk Pathogenic —
RS2495990583 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495990647 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495994026 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2495995561 DNAJB13 Health Risk Likely pathogenic —
RS2495995968 ERCC6 Health Risk Pathogenic —
RS2495996016 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, Cerebrooculofacioskeletal syndrome 1
RS2496000368 SF3B2 Health Risk Pathogenic Craniofacial microsomia 1, Craniofacial microsomia 1
RS2496002045 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2496002747 PAX6 Health Risk Pathogenic Coloboma, ocular
RS2496003605 PAX6 Health Risk Pathogenic Congenital aniridia, Congenital aniridia
RS2496004464 PAX6 Health Risk Conflicting classifications of pathogenicity Developmental disorder, Isolated optic nerve hypoplasia
RS2496006701 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496006798 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496006893 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496007406 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496008937 ERCC6 Health Risk Pathogenic —
RS2496008939 RELT Health Risk Likely pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS2496008991 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496009062 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496009092 ERCC6 Health Risk Pathogenic —
RS2496009170 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496009185 ERCC6 Health Risk Pathogenic —
RS2496013240 PGM2L1 Health Risk Pathogenic —
RS2496013518 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS2496016889 FERMT3 Health Risk Pathogenic Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS2496020401 AMOTL1 Health Risk Pathogenic Craniofaciocardiohepatic syndrome, Craniofaciocardiohepatic syndrome
RS2496022254 MYPN Health Risk Likely pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS2496022258 MYPN Health Risk Likely pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS2496024369 SCYL1 Health Risk Likely pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS2496026698 CAPRIN1 Health Risk Likely pathogenic Autistic behavior, Moderate intellectual disability
RS2496031806 FERMT3 Health Risk Pathogenic Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS2496032960 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496033253 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496033437 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496033440 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2496034507 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Autosomal recessive distal spinal muscular atrophy 1
RS2496034612 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2496034725 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2496034758 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2496049330 CEP57 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 2
RS2496049730 FERMT3 Health Risk Likely pathogenic Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS2496050378 ERCC6 Health Risk Pathogenic —
RS2496050980 ERCC6 Health Risk Pathogenic —
RS2496050991 PSMC3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2496051000 ERCC6 Health Risk Likely pathogenic —
RS2496054182 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2496055707 PSMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2496056054 PSMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2496062221 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2496064359 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2496065853 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2496067678 CAPRIN1 Health Risk Pathogenic Neurodevelopmental disorder with language impairment, autism
RS2496067951 CAPRIN1 Health Risk Pathogenic Juvenile myoclonic epilepsy, Juvenile myoclonic epilepsy
RS2496067959 CAPRIN1 Health Risk Pathogenic Neurodevelopmental disorder with language impairment, autism
RS2496070562 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2496070621 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2496076667 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2496078103 CAPRIN1 Health Risk Pathogenic —
RS2496079413 CAPRIN1 Health Risk Pathogenic Neurodevelopmental disorder with language impairment, autism
RS2496080518 RAPSN Health Risk Likely pathogenic Fetal akinesia deformation sequence 2, Fetal akinesia deformation sequence 2
RS2496080823 RAPSN Health Risk Likely pathogenic Fetal akinesia deformation sequence 2, Fetal akinesia deformation sequence 2
RS2496080892 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2496086381 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2496086396 PLCE1 Health Risk Likely pathogenic Nephrotic syndrome, type 3
RS2496086694 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2496086825 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2496087067 RAPSN Health Risk Likely pathogenic Fetal akinesia deformation sequence 2, Fetal akinesia deformation sequence 2
RS2496097284 RAPSN Health Risk Likely pathogenic Fetal akinesia deformation sequence 2, Congenital myasthenic syndrome 11
RS2496097769 CAPRIN1 Health Risk Conflicting classifications of pathogenicity Neurodegeneration, childhood-onset
RS2496099745 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 2, Fetal akinesia deformation sequence 2
RS2496099950 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS2496099964 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
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