rs1131691564, NR0B1

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.
DOSAGE-SENSITIVE SEX REVERSAL
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
12 0.925 0.160 X 30308656 stop gained C/T snv 0.700 0
X-linked Adrenal Hypoplasia
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
70 0.925 0.160 X 30308656 stop gained C/T snv 0.700 0