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
RS2096281827 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2096283005 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2096283096 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2096283124 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2096283216 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS2096283252 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2096322019 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS2096322248 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2096324530 GCK Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Transient Neonatal Diabetes
RS2096324894 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Permanent neonatal diabetes mellitus
RS2096326746 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2096362304 SCYL2 Health Risk Pathogenic Arthrogryposis multiplex congenita 4, neurogenic
RS2096371289 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Inborn genetic diseases
RS2096469777 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2096481989 CAMK2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2096491549 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2096501278 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2096502530 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2096504394 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2096546315 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2096546757 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2096571200 SOX5 Health Risk Pathogenic —
RS2096571436 SOX5 Health Risk Pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2096589470 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2096651533 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2096675479 KMT2C Health Risk Pathogenic Neoplasm, Neoplasm
RS2096680726 CAMK2B Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2096699885 CAMK2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2096780961 CAMTA1 Health Risk Pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2096781049 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS2096785311 CAMTA1 Health Risk Pathogenic —
RS2096785839 CAMTA1 Health Risk Pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2096799052 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2096801796 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS2096803850 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2096805941 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2096823537 NEB Health Risk Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS2096854165 CAMTA1 Health Risk Conflicting classifications of pathogenicity Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Inborn genetic diseases
RS2096858510 DST Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2096866859 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2096867388 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2096893099 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2096895734 CAMTA1 Health Risk Pathogenic —
RS2097114467 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2097209399 FLNB Health Risk Likely pathogenic Atelosteogenesis type III, Atelosteogenesis type III
RS2097238148 FLNB Health Risk Pathogenic —
RS2097257677 FLNB Health Risk Likely pathogenic Atelosteogenesis type III, Atelosteogenesis type III
RS2097315324 FLNB Health Risk Likely pathogenic —
RS2097315347 FLNB Health Risk Pathogenic —
RS2097330797 FLNB Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS2097405328 DNASE1L3 Health Risk Likely pathogenic —
RS2097405382 DNASE1L3 Health Risk Likely pathogenic —
RS2097447247 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2097447453 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2097447725 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2097447879 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2097449114 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097452910 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097453337 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097481521 HTRA1 Health Risk Pathogenic HTRA1-related autosomal dominant cerebral small vessel disease, HTRA1-related autosomal dominant cerebral small vessel disease
RS2097481554 HTRA1 Health Risk Likely pathogenic CARASIL syndrome, CARASIL syndrome
RS2097494390 HTRA1 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2097516516 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2097534211 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2097544341 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2097548467 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097550591 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097567446 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2097569950 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097571378 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097595072 SLC25A3 Health Risk Pathogenic Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome
RS2097597579 SLC25A3 Health Risk Pathogenic Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome
RS2097656766 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2097711696 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097711830 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097713802 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097713999 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097746958 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2097747311 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2097747388 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2097752909 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2097753394 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2097758221 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2097759896 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097762566 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2097762588 DMD Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2097762928 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2097773424 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097773972 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097775442 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2097780990 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS2097844381 ALDH18A1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive complex spastic paraplegia type 9B, Autosomal dominant spastic paraplegia type 9
RS2097848034 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2097849676 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2097849830 DMD Health Risk Pathogenic/Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2097850041 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2097850128 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2097882117 ALDH18A1 Health Risk Pathogenic —
RS2097886912 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2097887468 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
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