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
RS1556669914 DMD Health Risk Pathogenic —
RS1556760603 NDUFB11 Health Risk Likely pathogenic Linear skin defects with multiple congenital anomalies 3, NDUFB11-related disorders
RS1556760660 NDUFB11 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 30
RS1556760664 NDUFB11 Health Risk Likely pathogenic —
RS1556764743 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556764753 DMD Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Duchenne muscular dystrophy
RS1556764880 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556764922 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556764934 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556770954 RBM10 Health Risk Pathogenic TARP syndrome, TARP syndrome
RS1556772860 RBM10 Health Risk Pathogenic Neurodevelopmental delay, TARP syndrome
RS1556778986 RBM10 Health Risk Pathogenic TARP syndrome, TARP syndrome
RS1556779417 RBM10 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556780579 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556780711 DMD Health Risk Pathogenic —
RS1556782020 RBM10 Health Risk Likely pathogenic TARP syndrome, TARP syndrome
RS1556782770 RBM10 Health Risk Likely pathogenic —
RS1556787651 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, VEXAS syndrome
RS1556788826 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS1556789913 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556790316 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556802319 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556802365 DMD Health Risk Pathogenic —
RS1556806346 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556806356 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1556809625 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556809704 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556810362 DMD Health Risk Pathogenic —
RS1556834394 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS1556834513 DMD Health Risk Pathogenic/Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS1556836399 KDM5C Health Risk Pathogenic Inborn genetic diseases, Syndromic X-linked intellectual disability Claes-Jensen type
RS1556836492 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1556836552 KDM5C Health Risk Pathogenic —
RS1556837277 KDM5C Health Risk Pathogenic —
RS1556837420 KDM5C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556838661 KDM5C Health Risk Pathogenic Inborn genetic diseases, Spastic paraplegia
RS1556838673 KDM5C Health Risk Pathogenic —
RS1556840029 KDM5C Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1556842137 KDM5C Health Risk Pathogenic —
RS1556842184 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS1556842216 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Syndromic X-linked intellectual disability Claes-Jensen type
RS1556842268 KDM5C Health Risk Pathogenic —
RS1556851537 KDM5C Health Risk Pathogenic —
RS1556852362 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS1556852444 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1556853022 DMD Health Risk Pathogenic —
RS1556853039 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556853298 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556856142 KDM5C Health Risk Pathogenic —
RS1556857412 SYN1 Health Risk Likely pathogenic —
RS1556857481 SYN1 Health Risk Pathogenic/Likely pathogenic Epilepsy, X-linked 1
RS1556858900 IQSEC2 Health Risk Likely pathogenic —
RS1556858912 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1556858927 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1556859257 IQSEC2 Health Risk Pathogenic —
RS1556859652 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1556859667 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1556859744 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1556860401 IQSEC2 Health Risk Pathogenic —
RS1556860638 SYN1 Health Risk Likely pathogenic Inborn genetic diseases, Intellectual disability
RS1556860663 SYN1 Health Risk Pathogenic/Likely pathogenic Epilepsy, X-linked 1
RS1556860937 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1556861311 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1556861369 IQSEC2 Health Risk Pathogenic —
RS1556861372 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1556862167 IQSEC2 Health Risk Pathogenic —
RS1556862426 IQSEC2 Health Risk Likely pathogenic —
RS1556862958 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1556863043 IQSEC2 Health Risk Pathogenic —
RS1556863090 IQSEC2 Health Risk Pathogenic —
RS1556863165 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1556863213 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1556863340 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1556863398 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1556863435 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1556863492 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1556865060 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1556865104 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1556870861 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS1556875089 DMD Health Risk Likely pathogenic —
RS1556875180 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556875224 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1556876203 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556876346 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556876421 DMD Health Risk Pathogenic —
RS1556880284 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1556880327 DMD Health Risk Likely pathogenic Elevated circulating creatine kinase concentration, Progressive proximal muscle weakness
RS1556880354 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1556885810 SMC1A Health Risk Pathogenic Inborn genetic diseases, Congenital muscular hypertrophy-cerebral syndrome
RS1556886034 SMC1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Congenital muscular hypertrophy-cerebral syndrome
RS1556886124 SMC1A Health Risk Pathogenic/Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases
RS1556886127 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1556887759 SMC1A Health Risk Pathogenic/Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1556887777 SMC1A Health Risk Pathogenic —
RS1556888010 SMC1A Health Risk Pathogenic —
RS1556888550 SMC1A Health Risk Pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS1556889236 SMC1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Congenital muscular hypertrophy-cerebral syndrome
RS1556889269 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1556889534 SMC1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556889599 SMC1A Health Risk Pathogenic —
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