Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1564421528
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.700 0