rs587776925, SNRPE

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.
HYPOTRICHOSIS 11
CUI: C3554409
Disease: HYPOTRICHOSIS 11
2 0.925 0.040 1 203863714 missense variant G/A snv 0.800 1.000 1 2013 2013
Hypotrichosis simplex
CUI: C1854310
Disease: Hypotrichosis simplex
5 0.925 0.040 1 203863714 missense variant G/A snv 0.010 1.000 1 2013 2013