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: rs2229013
rs2229013
1.000 0.160 X 8535755 missense variant C/A;T snv 8.7E-04
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.010 1.000 1 2013 2013