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PIEZO2

From SNPedia
is agene
is mentioned by
ClinVarPIEZO2
GeneCardsPIEZO2
DiseasesPIEZO2
wikipediaPIEZO2
googlePIEZO2
gopubmedPIEZO2
EVSPIEZO2
HEFalMpPIEZO2
MyGene2PIEZO2
23andMePIEZO2
# SNPs27
 Max MagnitudeChromosome positionSummary
rs1057519425010,705,375
rs1057519426010,794,978
rs1057519626010,762,940
rs1108046610,899,030
rs1245592411,064,410
rs26427210,923,810
rs286512610,766,427
rs587777076010,784,872
rs587777077010,671,605
rs587777450010,671,729
rs587777451010,671,730
rs587777452010,671,633
rs587777453010,789,114
rs587777454010,671,571
rs724159993010,671,541
rs878853135010,671,578
rs878853136010,671,603
rs878853137010,689,746
rs878853138010,696,257
rs878853139010,696,263
rs878853140010,762,977
rs886039821010,715,679
rs886039822010,736,621
rs886039823010,715,678
rs886039824010,773,414
rs927091191010,855,557

From 10.1016/bs.ctm.2017.01.001:

Loss-of-function mutations in the human PIEZO2 gene cause an autosomal recessive syndrome of muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis. Gain-of-function mutations in the human PIEZO2 gene cause three clinical types of autosomal dominant distal arthrogryposis.