rs104894118, NR5A1

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.
PREMATURE OVARIAN FAILURE 7 (disorder)
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
9 0.882 0.080 9 124500196 missense variant C/A;T snv 1.6E-05; 4.1E-06 0.700 1.000 2 2000 2016
ADRENAL INSUFFICIENCY, NR5A1-RELATED
CUI: C4479664
Disease: ADRENAL INSUFFICIENCY, NR5A1-RELATED
2 0.882 0.080 9 124500196 missense variant C/A;T snv 1.6E-05; 4.1E-06 0.700 0
Adrenal cortical hypofunction
CUI: C0405580
Disease: Adrenal cortical hypofunction
5 0.882 0.080 9 124500196 missense variant C/A;T snv 1.6E-05; 4.1E-06 0.010 1.000 1 2000 2000
Adrenal gland hypofunction
CUI: C0001623
Disease: Adrenal gland hypofunction
10 0.882 0.080 9 124500196 missense variant C/A;T snv 1.6E-05; 4.1E-06 0.010 1.000 1 2000 2000