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
RS2151123906 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151123968 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151124655 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151125463 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2151125489 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151125849 PRPF8 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2151125946 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151126006 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS2151126163 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151126581 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151127331 SLX4 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2151127334 PRPF8 Health Risk Pathogenic —
RS2151127625 PER3 Health Risk Likely pathogenic See cases, See cases
RS2151128210 PRPF8 Health Risk Likely pathogenic —
RS2151129654 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151130274 SLX4 Health Risk Pathogenic —
RS2151130294 SLX4 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2151131241 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2151131708 SLC38A8 Health Risk Pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS2151133852 SLX4 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2151133964 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS2151133987 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS2151134253 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151134473 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151134645 PFN1 Health Risk Likely pathogenic Neurodegeneration, Amyotrophic lateral sclerosis type 18
RS2151134671 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151134692 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151134923 THOC6 Health Risk Likely pathogenic THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RS2151136498 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151136903 MBTPS1 Health Risk Pathogenic Spondyloepiphyseal dysplasia, kondo-fu type
RS2151137423 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151138290 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2151139871 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group P, Fanconi anemia
RS2151139881 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151139911 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151144481 ENO3 Health Risk Pathogenic Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
RS2151145090 BLM Health Risk Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151145092 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151146678 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151146681 CPLANE1 Health Risk Pathogenic —
RS2151146787 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151147261 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151147279 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151147324 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2151147384 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151147521 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151147614 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151147628 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151147654 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151147666 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151147692 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS2151147765 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151147939 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2151147969 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151148137 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151148207 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151149532 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151149553 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151149592 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151149598 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2151150644 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151151998 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151152104 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151152131 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151152275 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS2151152283 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151153688 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2151155696 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151155973 TSC2 Health Risk Pathogenic —
RS2151156278 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2151156291 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151157115 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151157127 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151157132 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151157384 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151157428 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151157545 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151158046 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151158066 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151158091 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151158165 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151158316 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2151158321 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151158332 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2151158428 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151158629 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151158659 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151158869 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151158979 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151159026 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151159067 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151159180 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151159204 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151160106 MBTPS1 Health Risk Pathogenic Spondyloepiphyseal dysplasia, kondo-fu type
RS2151160492 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2151160567 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151160725 PKHD1 Health Risk Likely pathogenic —
RS2151160778 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151161019 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151161634 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
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