Disease: Reifenstein Syndrome
Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137852564
AR
0.827 0.240 X 67722976 missense variant G/A;T snv 5
rs137852573
AR
0.807 0.280 X 67686064 missense variant G/A snv 4
rs137852569
AR
0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06 3
rs137852577
AR
0.882 0.200 X 67722898 missense variant C/T snv 3
rs143040492
AR
0.882 0.200 X 67723690 missense variant C/T snv 1.1E-05 9.6E-06 3
rs886041133
AR
0.882 0.200 X 67723746 missense variant G/A;C snv 5.5E-06 3
rs9332969
AR
0.827 0.240 X 67722899 missense variant G/A;T snv 3
rs9332971
AR
0.851 0.200 X 67722944 missense variant G/A;T snv 3