rs1568069621, PIEZO2

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
33 0.925 0.080 18 10797517 stop gained G/A snv 0.700 1.000 2 2017 2020
Early severe fetal akinesia sequence
CUI: C3151520
Disease: Early severe fetal akinesia sequence
15 0.925 0.080 18 10797517 stop gained G/A snv 0.700 1.000 2 2017 2020
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
CUI: C4310692
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
11 0.925 0.080 18 10797517 stop gained G/A snv 0.700 0