rs104894562, FOXN1

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.
T-cell immunodeficiency, congenital alopecia and nail dystrophy
CUI: C1866426
Disease: T-cell immunodeficiency, congenital alopecia and nail dystrophy
3 0.882 0.200 17 28529157 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
Agenesis
CUI: C0000846
Disease: Agenesis
44 0.882 0.200 17 28529157 stop gained C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
Alopecia universalis
CUI: C0263505
Disease: Alopecia universalis
2 0.882 0.200 17 28529157 stop gained C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012