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
RS2148273933 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148274117 AGBL5 Health Risk Pathogenic —
RS2148275240 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148276127 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Cardiomyopathy
RS2148276174 TAF1 Health Risk Pathogenic Heart, malformation of
RS2148276974 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148277199 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148277610 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148277718 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148279831 DMD Health Risk Pathogenic —
RS2148280047 STAG2 Health Risk Pathogenic Holoprosencephaly 13, X-linked
RS2148280427 DMD Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2148280593 DMD Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2148280837 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Cardiomyopathy
RS2148280872 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148280961 AHDC1 Health Risk Pathogenic —
RS2148281776 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148283415 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148283610 AHDC1 Health Risk Pathogenic —
RS2148284522 AHDC1 Health Risk Likely pathogenic See cases, See cases
RS2148285877 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148286122 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148286911 AHDC1 Health Risk Pathogenic —
RS2148287085 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148287339 DMD Health Risk Pathogenic —
RS2148287624 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148287711 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148288214 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148288724 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148288765 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148289012 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148289299 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148290176 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2148290215 DMD Health Risk Conflicting classifications of pathogenicity Becker muscular dystrophy, DMD-related disorder
RS2148290255 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148290349 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148290914 DMD Health Risk Pathogenic —
RS2148291547 AHDC1 Health Risk Likely pathogenic See cases, See cases
RS2148291755 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148292190 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148292413 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148293420 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148293838 BPTF Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2148294647 TPM3 Health Risk Likely pathogenic Congenital myopathy with fiber type disproportion, Congenital myopathy 4B
RS2148295371 TPM3 Health Risk Pathogenic Congenital myopathy with fiber type disproportion, Congenital myopathy 4B
RS2148295444 TPM3 Health Risk Likely pathogenic Congenital myopathy 4B, autosomal recessive
RS2148296095 AHDC1 Health Risk Pathogenic —
RS2148296981 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148297268 DMD Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Duchenne muscular dystrophy
RS2148297320 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148297423 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148297581 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Thyroid cancer
RS2148298982 NBAS Health Risk Likely pathogenic —
RS2148299424 CCNQ Health Risk Likely pathogenic Syndactyly-telecanthus-anogenital and renal malformations syndrome, Syndactyly-telecanthus-anogenital and renal malformations syndrome
RS2148300897 MAMLD1 Health Risk Pathogenic —
RS2148301258 HNRNPR Health Risk Likely pathogenic —
RS2148307303 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS2148310866 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148311910 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148312047 CSF2RA Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS2148312289 NBAS Health Risk Pathogenic —
RS2148318641 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS2148319465 KCNQ4 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS2148319965 KCNQ4 Health Risk Conflicting classifications of pathogenicity —
RS2148320011 KCNQ4 Health Risk Conflicting classifications of pathogenicity —
RS2148320413 KCNQ4 Health Risk Conflicting classifications of pathogenicity —
RS2148320944 ADGRG1 Health Risk Pathogenic Abnormal cerebral morphology, Abnormal cerebral morphology
RS2148320989 STAG2 Health Risk Pathogenic —
RS2148324207 KCNQ4 Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS2148326568 STAG2 Health Risk Pathogenic Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome
RS2148328604 G6PD Health Risk Likely pathogenic Malaria, susceptibility to
RS2148328679 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2148328852 G6PD Health Risk Pathogenic/Likely pathogenic Anemia, nonspherocytic hemolytic
RS2148328873 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS2148328905 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS2148328996 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2148329233 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2148329890 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2148330566 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2148331380 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2148331875 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2148331887 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS2148332084 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS2148332252 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148333619 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Thyroid cancer
RS2148334279 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148334397 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148335170 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148335739 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148337014 ASH1L Health Risk Pathogenic —
RS2148338047 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2148338719 ATRX Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2148339573 NBAS Health Risk Likely pathogenic —
RS2148340009 NBAS Health Risk Pathogenic —
RS2148340155 NBAS Health Risk Likely pathogenic —
RS2148341850 POLA1 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, van Esch type
RS2148343294 STAG2 Health Risk Likely pathogenic —
RS2148343613 ATRX Health Risk Likely pathogenic ATRX-related disorder, ATRX-related disorder
RS2148347582 TAF1 Health Risk Likely pathogenic —
RS2148348431 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
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