rs1374154597, PPP2R3A

N. diseases: 2
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.
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
80 1.000 0.120 3 136023097 frameshift variant -/G delins 0.010 1.000 1 2013 2013
Malignant transformation
CUI: C1608408
Disease: Malignant transformation
20 1.000 0.120 3 136023097 frameshift variant -/G delins 0.010 1.000 1 2013 2013