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
RS2522308071 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522308229 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522308250 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Thyroid cancer
RS2522308342 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522308589 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS2522308926 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, atypical
RS2522313979 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522313994 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522314007 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522314343 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522314407 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522314422 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522314447 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522314448 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522314496 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522314565 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522314785 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522314822 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522315171 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS2522315377 PLP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS2522315449 PLP1 Health Risk Likely pathogenic —
RS2522315461 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522315532 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522317742 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522317749 PLP1 Health Risk Pathogenic Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder
RS2522317774 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522317884 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522317982 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522318249 PLP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS2522318268 PLP1 Health Risk Pathogenic/Likely pathogenic Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2
RS2522318452 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522322584 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522322595 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS2522322667 ATP7A Health Risk Pathogenic Cutis laxa, X-linked
RS2522322864 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522323163 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522323175 PLP1 Health Risk Pathogenic/Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522323235 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522323274 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522325486 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522325537 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522325555 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522325590 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522325861 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522325948 ZMPSTE24 Health Risk Pathogenic —
RS2522328650 PLP1 Health Risk Conflicting classifications of pathogenicity Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2522341060 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2522341176 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2522347918 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522348248 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522348266 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522348387 ATP7A Health Risk Pathogenic Cutis laxa, X-linked
RS2522349526 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes disease, copper-replacement responsive
RS2522349649 SNIP1 Health Risk Likely pathogenic Psychomotor retardation, epilepsy
RS2522349795 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522349949 ATP7A Health Risk Pathogenic —
RS2522350105 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522350125 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522350149 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522350311 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522350411 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522350678 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522354463 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522354532 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522354641 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522354743 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS2522354956 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522355124 ATP7A Health Risk Likely pathogenic —
RS2522355229 ATP7A Health Risk Pathogenic See cases, See cases
RS2522358948 ATP7A Health Risk Pathogenic Cutis laxa, X-linked
RS2522367272 ZMPSTE24 Health Risk Pathogenic Lethal tight skin contracture syndrome, Lethal tight skin contracture syndrome
RS2522371088 ATP7A Health Risk Pathogenic —
RS2522372906 ATP7A Health Risk Likely pathogenic X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS2522372927 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522380867 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522381240 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522381476 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522381566 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522381840 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522382258 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522382789 TRIT1 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35
RS2522384987 CSF2RA Health Risk Likely pathogenic Surfactant metabolism dysfunction, pulmonary
RS2522387231 CSF2RA Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS2522392299 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522392674 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522392716 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS2522397192 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522397551 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS2522398766 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522399220 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522399270 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2522399296 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522399404 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522399879 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522399938 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522400132 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522401623 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522401762 TRIT1 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35
RS2522404519 STAG2 Health Risk Likely pathogenic Holoprosencephaly 13, X-linked
RS2522410495 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
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