rs1213451480, NR5A1

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.
46, XY Disorders of Sex Development
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
10 1.000 0.120 9 124500652 missense variant C/T snv 0.010 1.000 1 2014 2014
Congenital absence of spleen
CUI: C0600031
Disease: Congenital absence of spleen
6 1.000 0.120 9 124500652 missense variant C/T snv 0.010 1.000 1 2014 2014