rs1563322318, ERI1

N. diseases: 4
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.
Abnormality of finger
CUI: C2674737
Disease: Abnormality of finger
1 0.925 0.120 8 9018335 frameshift variant A/- delins 0.700 0
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 0.925 0.120 8 9018335 frameshift variant A/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.120 8 9018335 frameshift variant A/- delins 0.700 0
Unilateral agenesis of kidney
CUI: C0266294
Disease: Unilateral agenesis of kidney
7 0.925 0.120 8 9018335 frameshift variant A/- delins 0.700 0