Source: CLINVAR

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: rs137852567
rs137852567
AR
0.882 0.200 X 67717595 missense variant A/G snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 1.000 0 1992 2004