Source: ALL

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: rs137852515
rs137852515
0.925 0.160 X 8536852 missense variant C/T snv
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1
0.800 1.000 15 1993 2014
dbSNP: rs137852515
rs137852515
0.925 0.160 X 8536852 missense variant C/T snv
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.010 1.000 1 2014 2014