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
RS1557135631 MECP2 Health Risk Pathogenic/Likely pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1557135664 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135666 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135670 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135728 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135734 MECP2 Health Risk Pathogenic —
RS1557135788 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135793 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, X-linked intellectual disability-psychosis-macroorchidism syndrome
RS1557135847 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135851 MECP2 Health Risk Pathogenic —
RS1557135893 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557135901 MECP2 Health Risk Pathogenic —
RS1557135907 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557135929 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557136001 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Inborn genetic diseases
RS1557136013 MECP2 Health Risk Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS1557136059 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1557136146 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Rett syndrome
RS1557136171 MECP2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Rett syndrome
RS1557136251 MECP2 Health Risk Pathogenic —
RS1557136290 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, MECP2-related disorder
RS1557136332 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS1557136374 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557136493 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Rett syndrome
RS1557136523 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557136549 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557136591 MECP2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Rett syndrome
RS1557136758 MECP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1557136818 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557136974 MECP2 Health Risk Likely pathogenic —
RS1557137042 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1557137075 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1557137191 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1557137196 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1557137672 MECP2 Health Risk Pathogenic Global developmental delay, Metatarsus adductus
RS1557137675 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557137745 MECP2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1557137763 ATRX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
RS1557137776 MECP2 Health Risk Pathogenic —
RS1557137871 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557137874 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Inborn genetic diseases
RS1557137983 MECP2 Health Risk Pathogenic —
RS1557138007 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome
RS1557138081 ATRX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
RS1557139658 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1557140492 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, ATR-X-related syndrome
RS1557140572 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1557140622 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1557141410 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1557141862 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1557142053 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1557142844 ATRX Health Risk Likely pathogenic —
RS1557148369 ATRX Health Risk Likely pathogenic —
RS1557149892 ATRX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
RS1557150841 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1557150846 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1557175101 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS1557175195 FLNA Health Risk Pathogenic/Likely pathogenic Heterotopia, periventricular
RS1557175287 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1557175308 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1557175387 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1557175388 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1557175424 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS1557175616 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1557175646 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1557175653 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1557175789 FLNA Health Risk Likely pathogenic Vascular dilatation, Arterial thrombosis
RS1557176001 FLNA Health Risk Pathogenic —
RS1557176076 FLNA Health Risk Pathogenic —
RS1557176194 FLNA Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Heterotopia
RS1557176315 FLNA Health Risk Likely pathogenic Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS1557176498 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1557176526 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS1557176576 FMR1 Health Risk Pathogenic Fragile X syndrome, Fragile X syndrome
RS1557176607 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1557176613 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1557176615 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS1557176627 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1557177086 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS1557177279 FLNA Health Risk Likely pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS1557177400 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1557177485 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS1557177508 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1557177520 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1557177584 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS1557177623 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS1557177636 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS1557177663 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS1557177738 FLNA Health Risk Pathogenic Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS1557177750 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1557177797 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1557178033 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS1557178045 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS1557178130 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Oto-palato-digital syndrome
RS1557178152 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1557178198 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1557178278 FLNA Health Risk Conflicting classifications of pathogenicity Cardiac valvular dysplasia, X-linked
RS1557178535 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS1557178694 FLNA Health Risk Likely pathogenic —
RS1557178769 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
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