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: rs12979860
rs12979860
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
Endocrine System Diseases 0.030 1.000 3 2011 2017