RS139703788 ELP1

Health Risk Chr 9:108911156 snv missense variant
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Associated Conditions
Hereditary sensory and autonomic neuropathy
Familial dysautonomia
ELP1-Associated Medulloblastoma
Hereditary sensory and autonomic neuropathy
Familial dysautonomia
ELP1-Associated Medulloblastoma
Population Frequencies
gnomAD ALL
0.1%
1kG AFR
100%
1kG ALL
0.1%
1kG AMR
0.1%
1kG EAS
100%
1kG EUR
100%
1kG SAS
0.4%
Other Variants in ELP1
rs111033171 rs137853022 rs28939712 rs41278359 rs148378319 rs146440397 rs149845612 rs149685738 rs3737311 rs146956297
Ask Dr. Hemsworth about this variant