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
RS2498458753 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2498458835 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2498458921 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498459437 KMT2D Health Risk Pathogenic —
RS2498460380 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498461443 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498461602 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498461745 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498462626 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS2498462643 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498463081 KMT2D Health Risk Likely pathogenic KMT2D-related disorder, KMT2D-related disorder
RS2498465255 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498465708 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498465966 KMT2D Health Risk Pathogenic —
RS2498468054 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498473176 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498473279 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498479250 STIM1 Health Risk Pathogenic Myopathy, tubular aggregate
RS2498479376 STIM1 Health Risk Pathogenic Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome
RS2498486538 KRT6A Health Risk Likely pathogenic —
RS2498491241 KRT6A Health Risk Likely pathogenic Pachyonychia congenita 3, Pachyonychia congenita 3
RS2498494038 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2498502151 STIM1 Health Risk Likely pathogenic Stormorken syndrome, Myopathy with tubular aggregates
RS2498504999 GTSF1 Health Risk Pathogenic Male infertility, Male infertility
RS2498510980 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2498517138 KRT5 Health Risk Pathogenic —
RS2498519756 KRT5 Health Risk Likely pathogenic Epidermolysis bullosa simplex 2B, generalized intermediate
RS2498532193 DHH Health Risk Likely pathogenic —
RS2498535051 DENND5B Health Risk Pathogenic/Likely pathogenic DENND5B-related neurodevelopmental disorder, DENND5B-related neurodevelopmental disorder
RS2498536567 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498538271 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498538435 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498539706 PFKM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VII
RS2498556144 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498556266 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2498556494 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498557327 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498560491 NCKAP1L Health Risk Likely pathogenic Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
RS2498573232 PFKM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VII
RS2498573283 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498573323 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498574377 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498574816 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498579362 NCKAP1L Health Risk Pathogenic Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
RS2498581748 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498581910 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498583246 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498586215 NCKAP1L Health Risk Likely pathogenic —
RS2498598217 LRP6 Health Risk Pathogenic Tooth agenesis, selective
RS2498602741 AAAS Health Risk Pathogenic —
RS2498605895 AAAS Health Risk Likely pathogenic —
RS2498606038 AAAS Health Risk Pathogenic —
RS2498606100 AAAS Health Risk Pathogenic —
RS2498606232 AAAS Health Risk Pathogenic —
RS2498607342 KRT2 Health Risk Conflicting classifications of pathogenicity KRT2-related disorder, KRT2-related disorder
RS2498607356 KRT2 Health Risk Likely pathogenic Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens
RS2498608130 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2498608139 AAAS Health Risk Likely pathogenic —
RS2498608345 AAAS Health Risk Pathogenic —
RS2498609419 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS2498609617 AAAS Health Risk Pathogenic —
RS2498610063 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498610400 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498611146 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498614478 ADCY6 Health Risk Conflicting classifications of pathogenicity Lethal congenital contracture syndrome 8, Inborn genetic diseases
RS2498624378 AAAS Health Risk Pathogenic —
RS2498624394 AAAS Health Risk Pathogenic —
RS2498626373 AAAS Health Risk Likely pathogenic —
RS2498626554 AAAS Health Risk Pathogenic —
RS2498626631 AAAS Health Risk Pathogenic —
RS2498627975 AAAS Health Risk Likely pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS2498628131 AAAS Health Risk Pathogenic —
RS2498629425 NCKAP1L Health Risk Pathogenic Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
RS2498629456 KRT1 Health Risk Pathogenic Ichthyosis hystrix of Curth-Macklin, Ichthyosis hystrix of Curth-Macklin
RS2498629912 KRT1 Health Risk Pathogenic Epidermolytic ichthyosis, Epidermolytic ichthyosis
RS2498630516 KRT1 Health Risk Pathogenic Ichthyosis hystrix of Curth-Macklin, Ichthyosis hystrix of Curth-Macklin
RS2498637666 KRT1 Health Risk Pathogenic —
RS2498637710 KRT1 Health Risk Pathogenic Epidermolytic hyperkeratosis 1, Epidermolytic hyperkeratosis 1
RS2498638969 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2498639015 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2498639066 LRP6 Health Risk Pathogenic —
RS2498639236 LRP6 Health Risk Pathogenic —
RS2498639501 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498640038 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498640077 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498640156 LRP6 Health Risk Pathogenic —
RS2498641381 AAAS Health Risk Pathogenic —
RS2498644145 AAAS Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2498644465 AAAS Health Risk Pathogenic —
RS2498652283 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498652640 PHF21A Health Risk Pathogenic/Likely pathogenic PHF21A-related disorder, PHF21A-related disorder
RS2498664359 LRP6 Health Risk Pathogenic —
RS2498677983 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498679839 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498684078 LRP6 Health Risk Likely pathogenic LRP6-related disorder, LRP6-related disorder
RS2498686131 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498742907 LRP6 Health Risk Pathogenic Tooth agenesis, selective
RS2498744424 LRP6 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2498746301 DDX23 Health Risk Likely pathogenic Congenital bilateral perisylvian syndrome, Congenital bilateral perisylvian syndrome
RS2498750238 DDX23 Health Risk Pathogenic —
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