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: rs199696526
rs199696526
SEPTIN12
0.882 0.040 16 4786006 missense variant G/A snv 1.2E-04 5.6E-05
CUI: C3553793
Disease: SPERMATOGENIC FAILURE 10
SPERMATOGENIC FAILURE 10 		0.800 1.000 3 2012 2015
dbSNP: rs371195126
rs371195126
SEPTIN12
0.882 0.040 16 4783690 missense variant C/G;T snv 2.4E-05
CUI: C3553793
Disease: SPERMATOGENIC FAILURE 10
SPERMATOGENIC FAILURE 10 		0.800 1.000 3 2012 2015