Source: UNIPROT

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: rs143040492
rs143040492
AR
0.882 0.200 X 67723690 missense variant C/T snv 1.1E-05 9.6E-06
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 1.000 20 1992 2004