Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894118
rs104894118
0.882 0.080 9 124500196 missense variant C/A;T snv 1.6E-05; 4.1E-06
ADRENAL INSUFFICIENCY, NR5A1-RELATED
0.700 0
dbSNP: rs104894119
rs104894119
0.807 0.160 9 124500685 missense variant C/T snv
ADRENAL INSUFFICIENCY, NR5A1-RELATED
0.700 0